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Example MolecularDefinition/example-sequence-fmr1-cgg-20x-edited-referenced (JSON)

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

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

Example of Sequence profile of FMR1 using CGG motifs edited by external referenced sequence resources

{
  "resourceType" : "MolecularDefinition",
  "id" : "example-sequence-fmr1-cgg-20x-edited-referenced",
  "meta" : {
    "profile" : ["http://hl7.org/fhir/StructureDefinition/sequence"]
  },
  "type" : "dna",
  "representation" : [{
    "relative" : {
      "startingMolecule" : {
        "reference" : "MolecularDefinition/example-sequence-fmr1-cgg-20x-repeat",
        "type" : "MolecularDefinition",
        "display" : "CGG 20X"
      },
      "edit" : [{
        "coordinateSystem" : {
          "coding" : [{
            "system" : "http://loinc.org",
            "code" : "LA30102-0",
            "display" : "1-based character counting"
          }]
        },
        "start" : 31,
        "end" : 31,
        "replacementMolecule" : {
          "reference" : "MolecularDefinition/example-sequence-a",
          "type" : "MolecularDefinition",
          "display" : "A"
        },
        "replacedMolecule" : {
          "reference" : "MolecularDefinition/example-sequence-c",
          "type" : "MolecularDefinition",
          "display" : "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.