ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580155846
Gene: CHD8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1695641
ClinVar RCV Id:
RCV002265276
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001164100.1:p.Glu2104Ala
CA388879732
NM_001170629.2:c.6311A>C