Allele Registry

Canonical Allele Identifier: PA2828917380

Gene: DES HGNC NCBI

ClinVar RCV:

RCV001249249

ClinVar Variation:

972950

HGVS (amino-acid)	Matching Registered Transcripts
NP_001369642.1:p.Arg316Leu	CA350695018 NM_001382713.1:c.947G>T