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
consequence | NM_001395525.1:c.-281+2T>C - intronic_variant:loss_of_function_variant |
consequence | NM_001366781.1:c.90T>C - synonymous_variant |
consequence | Molecular Consequence |
consequence | Molecular Consequence |
variant | Variant |