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
NP_001164100.1:p.Asn319Lys	CA388885363 NM_001170629.2:c.957C>G CA388885364 NM_001170629.2:c.957C>A