ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916048985
Gene: CEP120
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362338.1:p.Arg69His
CA3387142
NM_001375409.1:c.206G>A