Canonical Allele Identifier: PA2825758285
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 500004
ClinVar RCV Id: RCV000598072 RCV000792953 RCV001535517 RCV003403397
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124453.1:p.Pro264Leu
CA1705463
NM_001130981.2:c.791C>T