ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827373653
Gene: CEP83
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333387.1:p.Arg172Trp
CA6721823
NM_001346458.2:c.514C>T