ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829936879
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_065971.2:p.Arg1765Gln
CA7090835
NM_020920.4:c.5294G>A