Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. 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 |