Allele Registry

Canonical Allele Identifier: PA2825762271

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000329171

RCV001247468

RCV001833378

ClinVar Variation:

287822

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124455.1:p.Ala316Thr	CA1705596 NM_001130983.2:c.946G>A