Allele Registry

Canonical Allele Identifier: PA645498380

Gene: DES HGNC NCBI

ClinVar RCV:

RCV000437250

RCV001313201

RCV002356524

RCV002488876

RCV003409586

ClinVar Variation:

377769

HGVS (amino-acid)	Matching Registered Transcripts
NP_001918.3:p.Arg406Gln	CA16604146 NM_001927.4:c.1217G>A