Allele Registry

Canonical Allele Identifier: PA2828916456

Gene: DES HGNC NCBI

ClinVar RCV:

RCV003802665

ClinVar Variation:

2941643

HGVS (amino-acid)	Matching Registered Transcripts
NP_001369640.1:p.Leu338Arg	CA216999 NM_001382711.1:c.1013T>G CA2740096450 NM_001382711.1:c.1013_1014delinsGC