Allele Registry

Canonical Allele Identifier: PA2825755282

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000592288

RCV001867926

ClinVar Variation:

497674

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124451.1:p.Tyr1679Cys	CA347220291 NM_001130979.2:c.5036A>G