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
ENSP00000494402.1:p.Val1752Leu
CA388880426
ENST00000645929.1:c.5254G>T
CA388880427
ENST00000645929.1:c.5254G>C