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
ENSP00000495070.1:p.Glu2072Asp	CA388880167 ENST00000643469.1:c.6216G>T CA388880168 ENST00000643469.1:c.6216G>C