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      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "XR_934495.2:n.2702G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610711"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658663373",
      "coordinates": [
        {
          "allele": "T",
          "end": 2692,
          "referenceAllele": "G",
          "start": 2691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "NM_017950.4:c.2671G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060420.2:p.Glu891Ter",
        "hgvsWellDefined": "NP_060420.2:p.Glu892_Ser1142delinsLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysValArgLeuGlyGlnLeuLeuLysGlnGlnGluLysMetIleArgAlaMetGluLeuAlaValAlaArgArgGluThrValThrThrGlnAlaGluGlyGlnArgLysMetAspArgLysAlaLeuThrArgThrAspPheHisHisLysGlnLeuGluLeuArgArgLysIleArgAspValArgLysAlaThrAspGluCysThrLysThrValLeuGluLeuGluGluThrGlnArgAsnValSerSerSerLeuLeuGluLysGlnGluLysLeuSerValIleGlnAlaAspPheAspThrLeuGluAlaAspLeuThrArgLeuGlyAlaLeuLysArgGlnAsnLeuSerGluIleValAlaLeuGlnThrArgLeuLysHisLeuGlnAlaValLysGluGlyArgTyrValPheLeuPheArgSerLysGlnSerLeuValLeuGluArgGlnArgLeuAspLysArgLeuAlaLeuIleAlaThrIleLeuAspArgValArgAspGluTyrProGlnPheGlnGluAlaLeuHisLysValSerGlnMetIleAlaAsnLysLeuGluSerProGlyProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669443",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397545.9:c.2671G>T"
          },
          "RefSeq": {
            "hgvs": "NM_017950.4:c.2671G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380679.4:p.Glu891Ter"
          },
          "RefSeq": {
            "hgvs": "NP_060420.2:p.Glu891Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826327298",
      "coordinates": [
        {
          "allele": "T",
          "end": 2692,
          "referenceAllele": "G",
          "start": 2691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "NM_001243342.2:c.2671G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230271.1:p.Glu891Ter",
        "hgvsWellDefined": "NP_001230271.1:p.Glu892_Ala1030delinsLysAlaThrLeuLeuAsnGlnLeuValGluAlaGluHisGlnIleMetLeuTrpGluLysLysIleGlnLeuAlaLysGluMetArgSerSerValAspSerGluIleGlyGlnThrGluIleArgAlaMetLysGlyGluIleHisArgMetLysLysTyrCysArgThrThrGlnAspAlaHisArgHisValHisGluGlnHisGlyThrHisAlaGlyThrCysThrLysAsnThrGlyArgAlaGlnAlaArgAlaArgThrThrArgAspAlaArgGlyHisValHisGluGlnHisGlyThrArgAlaGlyThrCysThrAsnAsnThrGlyArgAlaGlnAlaArgAlaArgThrArgAspAlaArgArgHisValHisGluHisArgThrHisThrAlaArgAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714473"
    }
  ],
  "type": "nucleotide"
}