Allele Registry

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

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000495240.1:p.Ile1767Leu	CA388884065 ENST00000646647.2:c.5299A>T CA388884067 ENST00000646647.2:c.5299A>C