Canonical Allele Identifier: PA645477002
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 94311
ClinVar RCV Id: RCV000080277 RCV000210633 RCV000499917 RCV000527027 RCV000675166 RCV001449935 RCV001573049 RCV003891555 RCV003993796
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124459.1:p.Gly129Glu
CA147747
NM_001130987.2:c.386G>A