ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915990970
Gene: CHD8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
752877
ClinVar RCV Id:
RCV000930058
RCV002445050
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001164100.1:p.Arg773Gln
CA7091597
NM_001170629.2:c.2318G>A