Allele Registry

Canonical Allele Identifier: PA645477843

Gene: DYSF HGNC NCBI

ClinVar Allele:

269370

ClinVar RCV:

RCV000304230

RCV000811495

ClinVar Variation:

285133

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124459.1:p.Arg2058Lys	CA10605008 NM_001130987.2:c.6173G>A