Allele Registry

Canonical Allele Identifier: PA2825762402

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000379326

RCV001244501

ClinVar Variation:

281067

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124455.1:p.Gly427Arg	CA10603801 NM_001130983.2:c.1279G>A CA347215045 NM_001130983.2:c.1279G>C