Allele Registry

Canonical Allele Identifier: PA645477583

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000335981

RCV000535143

RCV001274443

RCV002480026

ClinVar Variation:

285813

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124459.1:p.Arg500Cys	CA1705795 NM_001130987.2:c.1498C>T