Allele Registry

Canonical Allele Identifier: PA2828916047

Gene: DES HGNC NCBI

ClinVar RCV:

RCV001249249

ClinVar Variation:

972950

HGVS (amino-acid)	Matching Registered Transcripts
NP_001369639.1:p.Arg383Leu	CA350695018 NM_001382710.1:c.1148G>T