ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA278955
Gene: CHD8
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001164100.1:p.Arg582Ter
NM_001170629.2:c.1744C>T