Allele Registry

Canonical Allele Identifier: PA100488

Gene: DES HGNC NCBI

ClinVar RCV:

RCV000056775

RCV002265562

ClinVar Variation:

16829

HGVS (amino-acid)	Matching Registered Transcripts
NP_001918.3:p.Leu385Pro	CA217023 NM_001927.4:c.1154T>C