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.Ser2092Arg	CA388879903 ENST00000643469.1:c.6276C>G CA388879905 ENST00000643469.1:c.6276C>A CA388879935 ENST00000643469.1:c.6274A>C