Allele Registry

Canonical Allele Identifier: PA2828917313

Gene: DES HGNC NCBI

ClinVar RCV:

RCV003802665

ClinVar Variation:

2941643

HGVS (amino-acid)	Matching Registered Transcripts
NP_001369642.1:p.Leu248Arg	CA216999 NM_001382713.1:c.743T>G CA2740096450 NM_001382713.1:c.743_744delinsGC