Allele Registry

Canonical Allele Identifier: PA308309

Gene: DES HGNC NCBI

ClinVar RCV:

RCV000183368

RCV001852351

RCV002433813

ClinVar Variation:

201719

HGVS (amino-acid)	Matching Registered Transcripts
NP_001918.3:p.Glu100Ala	CA308307 NM_001927.4:c.299A>C