Allele Registry

Canonical Allele Identifier: PA100355

Gene: DES HGNC NCBI

ClinVar RCV:

RCV000018329

RCV000056767

RCV000651542

ClinVar Variation:

16835

HGVS (amino-acid)	Matching Registered Transcripts
NP_001918.3:p.Arg350Pro	CA126906 NM_001927.4:c.1049G>C