Allele Registry

Canonical Allele Identifier: PA2825763830

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000665182

RCV000711567

RCV002531059

ClinVar Variation:

500090

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124455.1:p.Arg1771Cys	CA1707345 NM_001130983.2:c.5311C>T