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
ENSP00000451601.1:p.Ser2034Arg
CA388880402
ENST00000557364.5:c.6102C>G
CA388880403
ENST00000557364.5:c.6102C>A
CA388880407
ENST00000557364.5:c.6100A>C