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Example MolecularDefinition/example-variation1 (JSON)

Clinical Genomics Work GroupMaturity Level: N/AStandards Status: InformativeCompartments: No defined compartments

Raw JSON (canonical form + also see JSON Format Specification)

Example of Variation profile of MSH2 2503C

{
  "resourceType" : "MolecularDefinition",
  "id" : "example-variation1",
  "meta" : {
    "profile" : ["http://hl7.org/fhir/StructureDefinition/variation"]
  },
  "type" : "dna",
  "location" : [{
    "sequenceLocation" : {
      "sequenceContext" : {
        "reference" : "MolecularDefinition/example-sequence-msh2",
        "type" : "MolecularDefinition",
        "display" : "Starting Sequence Resource: MSH2"
      },
      "coordinateInterval" : {
        "numberingSystem" : {
          "coding" : [{
            "system" : "http://loinc.org",
            "code" : "LA30100-4",
            "display" : "0-based interval counting"
          }],
          "text" : "0-based interval counting"
        },
        "startQuantity" : {
          "value" : 2502
        },
        "endQuantity" : {
          "value" : 2503
        }
      }
    }
  }],
  "representation" : [{
    "focus" : {
      "coding" : [{
        "system" : "http://hl7.org/fhir/moleculardefinition-focus",
        "code" : "reference-state",
        "display" : "Reference State"
      }]
    },
    "literal" : {
      "value" : "A"
    }
  },
  {
    "focus" : {
      "coding" : [{
        "system" : "http://hl7.org/fhir/moleculardefinition-focus",
        "code" : "alternative-state",
        "display" : "Alternative State"
      }]
    },
    "literal" : {
      "value" : "C"
    }
  }]
}

Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.