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Example MolecularDefinition/example-variation-pgx-var-1013 (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 of Pgx-var-1013

{
  "resourceType" : "MolecularDefinition",
  "id" : "example-variation-pgx-var-1013",
  "moleculeType" : {
    "coding" : [{
      "system" : "http://hl7.org/fhir/sequence-type",
      "code" : "dna",
      "display" : "DNA Sequence"
    }]
  },
  "location" : [{
    "sequenceLocation" : {
      "sequenceContext" : {
        "reference" : "MolecularDefinition/example-sequence-nc00001010-url",
        "type" : "MolecularDefinition",
        "display" : "Starting Sequence Resource: Homo sapiens chromosome 10, GRCh37.p13 Primary Assembly, NC_000010.10"
      },
      "coordinateInterval" : {
        "coordinateSystem" : {
          "system" : {
            "coding" : [{
              "system" : "http://loinc.org",
              "code" : "LA30102-0",
              "display" : "1-based character counting"
            }],
            "text" : "1-based character counting"
          }
        },
        "startQuantity" : {
          "value" : 96535173
        },
        "endQuantity" : {
          "value" : 96535173
        }
      }
    }
  }],
  "representation" : [{
    "focus" : {
      "coding" : [{
        "code" : "reference-state",
        "display" : "Reference State"
      }]
    },
    "literal" : {
      "value" : "T"
    }
  },
  {
    "focus" : {
      "coding" : [{
        "code" : "alternative-state",
        "display" : "Alternative State"
      }]
    },
    "literal" : {
      "value" : "T"
    }
  }]
}

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.