ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827374312
Gene: CEP83
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333389.1:p.Arg339Thr
CA6721777
NM_001346460.2:c.1016G>C