ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826898987
Gene: CIC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291744.1:p.Ser1333Cys
CA9471948
NM_001304815.2:c.3998C>G