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
ENSP00000496730.1:p.Arg783Ser	CA388876416 ENST00000646340.1:c.2349G>T CA388876417 ENST00000646340.1:c.2349G>C