Allele Registry

Canonical Allele Identifier: PA645497946

Gene: DES HGNC NCBI

ClinVar Allele:

228919

ClinVar RCV:

RCV000217963

RCV000726722

RCV000770168

RCV001084978

RCV002363072

ClinVar Variation:

228550

HGVS (amino-acid)	Matching Registered Transcripts
NP_001918.3:p.Thr219Ile	CA2125118 NM_001927.4:c.656C>T