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.Val973Leu	CA388903771 ENST00000646647.2:c.2917G>T CA388903773 ENST00000646647.2:c.2917G>C