ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645420455
Gene: CHD8
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001164100.1:p.Gln998Ter
NM_001170629.2:c.2992C>T