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

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000495070.1:p.Cys1490Ser
CA388893912
ENST00000643469.1:c.4469G>C
CA388893919
ENST00000643469.1:c.4468T>A