{

"resourceType": "Observation",
"id": "genetics-example2-germline",
"text": {
  "status": "generated",
  "div": "<div><p><b>Generated Narrative with Details</b></p><p><b>id</b>: genetics-example2-germline</p><p><b>status</b>: final</p><p><b>code</b>: BRCA1 gene mutation analysis <span>(Details : {LOINC code '21636-6' = 'BRCA1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal', given as 'BRCA1 gene mutation analysis'})</span></p><p><b>subject</b>: <a>Molecular Lab Patient ID: HOSP-23456</a></p><p><b>performer</b>: <a>Molecular Diagnostic Laboratory</a></p><p><b>specimen</b>: <a>Molecular Specimen ID: MLD45-Z4-1234</a></p></div>"
},
"extension": [
  {
    "url": "http://hl7.org/fhir/StructureDefinition/geneticsGenomeBuild",
    "valueString": "GRCh 37"
  },
  {
    "url": "http://hl7.org/fhir/StructureDefinition/geneticsChromosome",
    "valueCodeableConcept": {
      "coding": [
        {
          "system": "http://www.ncbi.nlm.nih.gov/gene",
          "code": "NC_000017"
        }
      ],
      "text": "Homo sapiens chromosome 17"
    }
  },
  {
    "url": "http://hl7.org/fhir/StructureDefinition/geneticsGenomicStart",
    "valueInteger": 41258504
  },
  {
    "url": "http://hl7.org/fhir/StructureDefinition/geneticsGenomicStop",
    "valueInteger": 41258505
  },
  {
    "url": "http://hl7.org/fhir/StructureDefinition/geneticsReferenceAllele",
    "valueString": "A"
  },
  {
    "url": "http://hl7.org/fhir/StructureDefinition/geneticsObservedAllele",
    "valueString": "C"
  },
  {
    "url": "http://hl7.org/fhir/StructureDefinition/geneticsGene",
    "valueCodeableConcept": {
      "coding": [
        {
          "system": "http://www.genenames.org",
          "code": "1100",
          "display": "BRCA1"
        }
      ]
    }
  },
  {
    "url": "http://hl7.org/fhir/StructureDefinition/geneticsDNASequenceVariation",
    "valueString": "c.181T>G"
  },
  {
    "url": "http://hl7.org/fhir/StructureDefinition/geneticsVariationId",
    "valueCodeableConcept": {
      "coding": [
        {
          "system": "http://www.ncbi.nlm.nih.gov/clinvar",
          "code": "17661",
          "display": "c.181T>G"
        }
      ]
    }
  },
  {
    "url": "http://hl7.org/fhir/StructureDefinition/geneticsDNARegionName",
    "valueString": "Exon 4"
  },
  {
    "url": "http://hl7.org/fhir/StructureDefinition/geneticsDNASequenceVariationType",
    "valueCodeableConcept": {
      "coding": [
        {
          "system": "http://loinc.org",
          "code": "LA6690-7",
          "display": "Substitution"
        }
      ]
    }
  },
  {
    "url": "http://hl7.org/fhir/StructureDefinition/geneticsAminoAcidChange",
    "valueString": "p.Cys61Gly"
  },
  {
    "url": "http://hl7.org/fhir/StructureDefinition/geneticsGenomicSourceClass",
    "valueCodeableConcept": {
      "coding": [
        {
          "system": "http://loinc.org",
          "code": "LA6683-2",
          "display": "Germline"
        }
      ]
    }
  },
  {
    "url": "http://hl7.org/fhir/StructureDefinition/geneticsSpecies",
    "valueCodeableConcept": {
      "coding": [
        {
          "system": "http://snomed.info/sct",
          "code": "337915000"
        }
      ],
      "text": "Homo sapiens"
    }
  },
  {
    "url": "http://hl7.org/fhir/StructureDefinition/geneticsCIGAR",
    "valueString": "1M"
  }
],
"status": "final",
"code": {
  "coding": [
    {
      "system": "http://loinc.org",
      "code": "21636-6",
      "display": "BRCA1 gene mutation analysis"
    }
  ]
},
"subject": {
  "reference": "Patient/genetics-example2-germline",
  "display": "Molecular Lab Patient ID: HOSP-23456"
},
"performer": [
  {
    "reference": "Practitioner/genetics-example2-germline",
    "display": "Molecular Diagnostic Laboratory"
  }
],
"specimen": {
  "reference": "Specimen/genetics-example2-germline",
  "display": "Molecular Specimen ID: MLD45-Z4-1234"
}

}