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.Leu990Phe	CA388903491 ENST00000643469.1:c.2970G>T CA388903494 ENST00000643469.1:c.2970G>C