Allele Registry

Canonical Allele Identifier: PA2828916465

Gene: DES HGNC NCBI

ClinVar RCV:

RCV002027221

RCV002486738

RCV003146490

ClinVar Variation:

1517261

HGVS (amino-acid)	Matching Registered Transcripts
NP_001369640.1:p.Ala353Ser	CA350694040 NM_001382711.1:c.1057G>T