ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139746143
Gene: CEP120
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694955.2:p.Ile445Phe
CA3387003
NM_153223.4:c.1333A>T