Allele Registry

Canonical Allele Identifier: PA1139719564

Gene: DES HGNC NCBI

ClinVar RCV:

RCV001225519

ClinVar Variation:

953258

HGVS (amino-acid)	Matching Registered Transcripts
NP_001918.3:p.Arg350Leu	CA350693836 NM_001927.4:c.1049G>T