ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828278658
Gene: CEP83
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354968.1:p.Asp269Val
CA6721749
NM_001368039.1:c.806A>T