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.His331Gln	CA388885560 ENST00000646063.1:c.993T>G CA388885561 ENST00000646063.1:c.993T>A