ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA243737
Gene: CHD8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_065971.2:p.Glu1750Lys
NM_020920.4:c.5248G>A