ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829936225
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_065971.2:p.Arg494Gln
CA7091597
NM_020920.4:c.1481G>A