Allele Registry

Canonical Allele Identifier: PA658811843

Gene: DES HGNC NCBI

ClinVar RCV:

RCV000596564

RCV001071277

RCV002456298

RCV002476290

RCV003388837

ClinVar Variation:

498347

HGVS (amino-acid)	Matching Registered Transcripts
NP_001918.3:p.Arg383His	CA350694581 NM_001927.4:c.1148G>A