Allele Registry

Canonical Allele Identifier: PA2825748913

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000007051

RCV000007052

RCV000080320

RCV000815134

RCV001813961

ClinVar Variation:

6668

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124448.1:p.Arg2028Cys	CA222203 NM_001130976.2:c.6082C>T