Allele Registry

Canonical Allele Identifier: PA2825750001

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000007059

RCV000176869

RCV000790765

RCV001232546

RCV004525846

ClinVar Variation:

6674

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124449.1:p.Trp985Cys	CA222147 NM_001130977.2:c.2955G>T CA347216658 NM_001130977.2:c.2955G>C