ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829936863
Gene: CHD8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2133371
ClinVar RCV Id:
RCV003064026
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065971.2:p.Ala1734Thr
CA388880541
NM_020920.4:c.5200G>A