This is the Continuous Integration Build of FHIR (will be incorrect/inconsistent at times).
See the Directory of published versions
Example of Allele profile including slices
{
"resourceType" : "MolecularDefinition",
"id" : "example-allelesliced1",
"meta" : {
"profile" : ["http://hl7.org/fhir/StructureDefinition/allelesliced"]
},
"type" : "dna",
"location" : [{
"sequenceLocation" : {
"sequenceContext" : {
"reference" : "MolecularDefinition/example-sequence-lrg584",
"type" : "MolecularDefinition",
"display" : "Starting Sequence Resource: LRG_584"
},
"coordinateInterval" : {
"numberingSystem" : {
"coding" : [{
"system" : "http://loinc.org",
"code" : "LA30100-4",
"display" : "0-based interval counting"
}],
"text" : "0-based interval counting"
},
"startQuantity" : {
"value" : 5001
},
"endQuantity" : {
"value" : 97867
}
}
}
}],
"representation" : [{
"focus" : {
"coding" : [{
"system" : "http://hl7.org/fhir/moleculardefinition-focus",
"code" : "allele-state",
"display" : "Allele State"
}]
},
"resolvable" : {
"reference" : "DocumentReference/example-genomicFile-ng0083843"
}
},
{
"focus" : {
"coding" : [{
"system" : "http://hl7.org/fhir/moleculardefinition-focus",
"code" : "context-state",
"display" : "Context State"
}]
},
"relative" : {
"startingMolecule" : {
"reference" : "MolecularDefinition/example-sequence-lrg584",
"type" : "MolecularDefinition",
"display" : "Starting Sequence Resource: LRG_584"
},
"edit" : [{
"coordinateSystem" : {
"coding" : [{
"system" : "http://loinc.org",
"code" : "LA30100-4",
"display" : "0-based interval counting"
}],
"text" : "0-based interval counting"
},
"start" : 5123,
"end" : 5124,
"replacementMolecule" : {
"reference" : "MolecularDefinition/example-sequence-t",
"type" : "MolecularDefinition",
"display" : "Replacement Sequence Resource: T"
},
"replacedMolecule" : {
"reference" : "MolecularDefinition/example-sequence-c",
"type" : "MolecularDefinition",
"display" : "Replaced Sequence Resource: 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.