ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828592127
Gene: CEP120
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362338.1:p.Ile254Phe
CA3387003
NM_001375409.1:c.760A>T