{ "description": "HGVS-nomenclature is used to report and exchange information regarding variants found in DNA, RNA and protein sequences and serves as an international standard. (source: varnomen.hgvs.org)", "compose": { "include": [ { "system": "http://varnomen.hgvs.org" } ] }, "_filename": "ValueSet-hgvs-vs.json", "package_name": "hl7.fhir.uv.genomics-reporting", "date": "2022-05-09T16:53:07+00:00", "publisher": "HL7 Clinical Genomics Working Group", "jurisdiction": [ { "coding": [ { "code": "001", "system": "http://unstats.un.org/unsd/methods/m49/m49.htm", "display": "World" } ] } ], "name": "HGVSVS", "type": null, "experimental": null, "resourceType": "ValueSet", "title": "Human Genome Variation Society (HGVS) Nomenclature", "package_version": "2.0.0", "status": "active", "id": "88098731-39ab-4901-9936-caa3afeec4f5", "kind": null, "url": "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs", "version": "2.0.0", "contact": [ { "name": "HL7 Clinical Genomics Working Group", "telecom": [ { "value": "http://www.hl7.org/Special/committees/clingenomics", "system": "url" }, { "value": "cg@lists.HL7.org", "system": "email" } ] } ] }