Canonical Allele Identifier: PA2825747339
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 288438
ClinVar RCV Id: RCV000597376 RCV000726165 RCV001214514 RCV003469244
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124448.1:p.Gly607Arg
CA10606091
NM_001130976.2:c.1819G>A
CA347218631
NM_001130976.2:c.1819G>C