Allele Registry

Canonical Allele Identifier: PA2825695203

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000287690

RCV001062505

RCV001271546

RCV002518115

RCV004549620

ClinVar Variation:

290095

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123927.1:p.Arg1587Gln	CA1707161 NM_001130455.2:c.4760G>A