Allele Registry

Canonical Allele Identifier: PA658811709

Gene: DES HGNC NCBI

ClinVar RCV:

RCV000592338

RCV000707403

RCV002431751

ClinVar Variation:

500027

HGVS (amino-acid)	Matching Registered Transcripts
NP_001918.3:p.Arg73Gln	CA2125038 NM_001927.4:c.218G>A