Allele Registry

Canonical Allele Identifier: PA2829466524

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000309668

RCV000345690

RCV001066203

RCV003144229

ClinVar Variation:

336955

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Ala577Val	CA1705924 NM_003494.4:c.1730C>T