ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573184738
Gene: CHD8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1679265
ClinVar RCV Id:
RCV002226862
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001164100.1:p.Val644Ala
CA388879203
NM_001170629.2:c.1931T>C