This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions
variants | |
variantItem | NM_001354609.2:c.1799T>A |
presence | false |
variants | |
variantItem | NM_007294.4:c.5559C>A |
presence | false |
variants | |
variantItem | NM_001354609.2:c.1802= |
presence | false |
variants | |
variantItem | NC_000001.10:g.12225351T>A |
presence | false |
variants | |
variantItem | NM_000038.6:c.55G>T |
presence | true |
variant | Variant |