Allele Registry

Canonical Allele Identifier: PA645477549

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000329171

RCV001247468

RCV001833378

ClinVar Variation:

287822

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124459.1:p.Ala347Thr	CA1705596 NM_001130987.2:c.1039G>A