Allele Registry

Canonical Allele Identifier: PA2825762538

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000309668

RCV000345690

RCV001066203

RCV003144229

ClinVar Variation:

336955

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124455.1:p.Ala578Val	CA1705924 NM_001130983.2:c.1733C>T