ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829937197
Gene: CHD8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065971.2:p.His2227_His2229dup
CA612384238
NM_020920.4:c.6680_6688dup