Allele Registry

Canonical Allele Identifier: PA2825762579

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000597376

RCV000726165

RCV001214514

RCV003469244

ClinVar Variation:

288438

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124455.1:p.Gly622Arg	CA10606091 NM_001130983.2:c.1864G>A CA347218631 NM_001130983.2:c.1864G>C