Allele Registry

Canonical Allele Identifier: PA2825759073

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000007059

RCV000176869

RCV000790765

RCV001232546

RCV004525846

ClinVar Variation:

6674

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124453.1:p.Trp1016Cys	CA222147 NM_001130981.2:c.3048G>T CA347216658 NM_001130981.2:c.3048G>C