Allele Registry

Canonical Allele Identifier: PA2828917327

Gene: DES HGNC NCBI

ClinVar RCV:

RCV002027221

RCV002486738

RCV003146490

ClinVar Variation:

1517261

HGVS (amino-acid)	Matching Registered Transcripts
NP_001369642.1:p.Ala270Ser	CA350694040 NM_001382713.1:c.808G>T