ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828592053
Gene: CEP120
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362337.1:p.Ile712Val
CA3386551
NM_001375408.1:c.2134A>G