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.Met2043Leu
CA388880349
ENST00000557364.5:c.6127A>C
CA388880351
ENST00000557364.5:c.6127A>T