Allele Registry

Canonical Allele Identifier: PA913197343

Gene: DES HGNC NCBI

ClinVar RCV:

RCV000770174

RCV001248642

RCV001562308

RCV002386331

RCV002507336

RCV003330941

ClinVar Variation:

626715

HGVS (amino-acid)	Matching Registered Transcripts
NP_001918.3:p.Thr442Asn	CA350698515 NM_001927.4:c.1325C>A