Allele Registry

Canonical Allele Identifier: PA2825756366

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000309668

RCV000345690

RCV001066203

RCV003144229

ClinVar Variation:

336955

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124452.1:p.Ala594Val	CA1705924 NM_001130980.2:c.1781C>T