ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827374128
Gene: CEP83
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333388.1:p.Arg575His
CA6721474
NM_001346459.2:c.1724G>A