Allele Registry

Canonical Allele Identifier: PA100505

Gene: DES HGNC NCBI

ClinVar RCV:

RCV000056786

RCV000239724

RCV001854166

ClinVar Variation:

66400

HGVS (amino-acid)	Matching Registered Transcripts
NP_001918.3:p.Lys449Thr	CA217038 NM_001927.4:c.1346A>C