ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499240780
Gene: CHD8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1254644
ClinVar RCV Id:
RCV001658826
RCV003486998
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001164100.1:p.Ser2094del