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.Ser2090Arg
CA388879947
ENST00000643469.1:c.6270C>G
CA388879948
ENST00000643469.1:c.6270C>A
CA388879956
ENST00000643469.1:c.6268A>C