Allele Registry

Canonical Allele Identifier: PA2825759144

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000361984

RCV000665677

RCV000693473

RCV003401254

ClinVar Variation:

286743

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124453.1:p.Arg1058Cys	CA1706454 NM_001130981.2:c.3172C>T