ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573184847
Gene: CHD8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001164100.1:p.Lys2373Glu
CA7090601
NM_001170629.2:c.7117A>G