Allele Registry

Canonical Allele Identifier: PA645477527

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000249294

RCV000532146

RCV000733997

RCV001833275

ClinVar Variation:

259085

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124459.1:p.Val258Met	CA1705456 NM_001130987.2:c.772G>A