Allele Registry

Canonical Allele Identifier: PA2828915180

Gene: DES HGNC NCBI

ClinVar RCV:

RCV002027221

RCV002486738

RCV003146490

ClinVar Variation:

1517261

HGVS (amino-acid)	Matching Registered Transcripts
NP_001369637.1:p.Ala359Ser	CA350694040 NM_001382708.1:c.1075G>T