Allele Registry

Canonical Allele Identifier: PA2825750685

Gene: DYSF HGNC NCBI

ClinVar RCV:

RCV000287690

RCV001062505

RCV001271546

RCV002518115

RCV004549620

ClinVar Variation:

290095

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124449.1:p.Arg1593Gln	CA1707161 NM_001130977.2:c.4778G>A