ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573279725
Gene: CHD8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1496076
ClinVar RCV Id:
RCV002015435
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065971.2:p.Ile74Phe
CA7091852
NM_020920.4:c.220A>T