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.Ser418Arg	CA388884512 ENST00000646063.1:c.1254C>G CA388884515 ENST00000646063.1:c.1254C>A CA388884522 ENST00000646063.1:c.1252A>C