Canonical Allele Identifier: PA891862160
Gene: CHD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 587911
ClinVar RCV Id: RCV002254709 RCV002312395 RCV003768119
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001164100.1:p.Arg2044Gln
CA7090835
NM_001170629.2:c.6131G>A