Allele Registry

Canonical Allele Identifier: PA217071

Gene: DES HGNC NCBI

ClinVar RCV:

RCV000056800

RCV000154600

RCV001061421

ClinVar Variation:

66412

HGVS (amino-acid)	Matching Registered Transcripts
NP_001918.3:p.Ser12Phe	CA217069 NM_001927.4:c.35C>T