ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829936167
Gene: CHD8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1213586
ClinVar RCV Id:
RCV001581735
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065971.2:p.Arg372Trp
CA388879119
NM_020920.4:c.1114C>T