Allele Registry

Canonical Allele Identifier: PA078160

Gene: DES HGNC NCBI

ClinVar RCV:

RCV000208223

RCV000620253

RCV000651548

RCV000725602

RCV002467674

RCV002485357

RCV003330581

RCV003390956

ClinVar Variation:

222542

HGVS (amino-acid)	Matching Registered Transcripts
NP_001918.3:p.Val215Met	CA078107 NM_001927.4:c.643G>A