Allele Registry

Canonical Allele Identifier: PA2825760748

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000379326

RCV001244501

ClinVar Variation:

281067

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124454.1:p.Gly458Arg	CA10603801 NM_001130982.2:c.1372G>A CA347215045 NM_001130982.2:c.1372G>C