Allele Registry

Canonical Allele Identifier: PA2825694005

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000176653

RCV000553449

RCV001267331

ClinVar Variation:

195961

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123927.1:p.Val892Ile	CA242686 NM_001130455.2:c.2674G>A