Canonical Allele Identifier: PA2829466358
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 283459
ClinVar RCV Id: RCV000269469 RCV000330051 RCV000361672 RCV000525084 RCV001274442
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003485.1:p.Arg462His
CA1705768
NM_003494.4:c.1385G>A