Allele Registry

Canonical Allele Identifier: PA2825760250

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000007051

RCV000007052

RCV000080320

RCV000815134

RCV001813961

ClinVar Variation:

6668

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124453.1:p.Arg2080Cys	CA222203 NM_001130981.2:c.6238C>T