Allele Registry

Canonical Allele Identifier: PA2825753413

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000304230

RCV000811495

ClinVar Variation:

285133

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124450.1:p.Arg2040Lys	CA10605008 NM_001130978.2:c.6119G>A