Allele Registry

Canonical Allele Identifier: PA222148

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000007059

RCV000176869

RCV000790765

RCV001232546

RCV004525846

ClinVar Variation:

6674

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124450.1:p.Trp999Cys	CA222147 NM_001130978.2:c.2997G>T CA347216658 NM_001130978.2:c.2997G>C