ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829936416
Gene: CHD8
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000432820
ClinVar Variation:
390288
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065971.2:p.Gly1043Arg
CA16607584
NM_020920.4:c.3127G>C