This is the Continuous Integration Build of FHIR (will be incorrect/inconsistent at times).
See the Directory of published versions
Example of Allele including slices for CYP2C19 position 1016 with contained resources
{
"resourceType" : "MolecularDefinition",
"id" : "example-allelesliced-cyp2c19-1016-cont",
"contained" : [{
"resourceType" : "MolecularDefinition",
"id" : "example-sequence-nm0007694-acc",
"moleculeType" : {
"coding" : [{
"system" : "http://hl7.org/fhir/sequence-type",
"code" : "rna",
"display" : "RNA Sequence"
}]
},
"representation" : [{
"code" : [{
"coding" : [{
"system" : "http://www.ncbi.nlm.nih.gov/refseq",
"code" : "NM_000769.4",
"display" : "Homo sapiens cytochrome P450 family 2 subfamily C member 19 (CYP2C19), mRNA"
}]
}]
}]
}],
"moleculeType" : {
"coding" : [{
"system" : "http://hl7.org/fhir/sequence-type",
"code" : "rna",
"display" : "RNA Sequence"
}]
},
"location" : [{
"sequenceLocation" : {
"sequenceContext" : {
"reference" : "#example-sequence-nm0007694-acc",
"type" : "MolecularDefinition",
"display" : "Starting Sequence Resource: (CYP2C19), mRNA, NM_000769.4"
},
"coordinateInterval" : {
"coordinateSystem" : {
"system" : {
"coding" : [{
"system" : "http://loinc.org",
"code" : "LA30102-0",
"display" : "1-based character counting"
}],
"text" : "1-based character counting"
}
},
"startQuantity" : {
"value" : 1016
},
"endQuantity" : {
"value" : 1016
}
}
}
}],
"representation" : [{
"focus" : {
"coding" : [{
"code" : "allele-state",
"display" : "Allele State"
}]
},
"code" : [{
"coding" : [{
"system" : "https://www.pharmvar.org",
"version" : "6.2",
"code" : "PV00076",
"display" : "CYP2C19*1.002"
}]
}],
"literal" : {
"value" : "G"
}
},
{
"focus" : {
"coding" : [{
"code" : "context-state",
"display" : "Context State"
}]
},
"literal" : {
"value" : "A"
}
}]
}
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.