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
ENSP00000496565.1:p.Val367Leu	CA388885104 ENST00000646063.1:c.1099G>T CA388885109 ENST00000646063.1:c.1099G>C