Allele Registry

Canonical Allele Identifier: PA2825754425

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000176653

RCV000553449

RCV001267331

ClinVar Variation:

195961

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124451.1:p.Val922Ile	CA242686 NM_001130979.2:c.2764G>A