Allele Registry

Canonical Allele Identifier: PA2825754613

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000361984

RCV000665677

RCV000693473

RCV003401254

ClinVar Variation:

286743

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124451.1:p.Arg1072Cys	CA1706454 NM_001130979.2:c.3214C>T