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  "communityStandardTitle": [
    "NM_016122.3(CEP83):c.1530C>A (p.Cys510Ter)"
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN017966",
      "geneNCBI_id": 51134,
      "geneSymbol": "CEP83",
      "hgvs": [
        "NM_001346458.2:c.1218C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333387.1:p.Cys406Ter",
        "hgvsWellDefined": "NP_001333387.1:p.Cys406_Glu597delinsArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgGlnAsnValProPheGluAspTyrThrArgLeuGlnLysArgLeuLysAspIleGlnArgArgHisAsnGluPheArgSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718942"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827374055",
      "coordinates": [
        {
          "allele": "A",
          "end": 1743,
          "referenceAllele": "C",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017966",
      "geneNCBI_id": 51134,
      "geneSymbol": "CEP83",
      "hgvs": [
        "NM_001346459.2:c.1218C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333388.1:p.Cys406Ter",
        "hgvsWellDefined": "NP_001333388.1:p.Cys406_Glu597delinsArgAsnPheArgSerGlnAlaGluLysAlaGlnLeuGluAlaGluLysThrLeuGluGluLysGlnIleGlnTrpLeuGluGluLysHisLysLeuHisGluArgIleThrAspArgGluGluLysTyrAsnGlnAlaLysGluLysLeuGlnArgAlaAlaIleAlaGlnLysLysArgLysSerLeuHisGluAsnLysLeuLysArgLeuGlnGluLysValGluValLeuGluAlaLysLysGluGluLeuGluThrGluAsnGlnValLeuAsnArgGlnAsnValProPheGluAspTyrThrArgLeuGlnLysArgLeuLysAspIleGlnArgArgHisAsnGluPheArgSerLeuIleLeuValProAsnMetProProThrAlaSerIleAsnProValSerPheGlnSerSerAlaMetValProSerMetGluLeuProPheProProHisMetGlnGluGluGlnHisGlnArgGluLeuSerLeuLeuArgLysArgLeuGluGluLeuGluThrThrGlnArgLysGlnLeuGluGluLeuGlySerSerGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718943"
    }
  ],
  "type": "nucleotide"
}