ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829936905
Gene: CHD8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1307636
ClinVar RCV Id:
RCV001763172
RCV002538823
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065971.2:p.Ser1804Phe
CA7090818
NM_020920.4:c.5411C>T