ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499254268
Gene: CEP83
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354971.1:p.Arg97Trp
CA6721823
NM_001368042.1:c.289C>T