This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: CHD8 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000494402.1:p.Glu1750Lys
ENST00000645929.1:c.5248G>A