Allele Registry

Canonical Allele Identifier: PA2825757239

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000591033

RCV002491213

RCV003574784

ClinVar Variation:

500922

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124452.1:p.Cys1378Arg	CA1706900 NM_001130980.2:c.4132T>C