Allele Registry

Canonical Allele Identifier: PA913197303

Gene: DES HGNC NCBI

ClinVar RCV:

RCV000732254

RCV001067513

RCV002388369

RCV002477711

ClinVar Variation:

596421

HGVS (amino-acid)	Matching Registered Transcripts
NP_001918.3:p.Arg350Gln	CA2125230 NM_001927.4:c.1049G>A