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      "proteinEffect": {
        "hgvs": "NP_006493.1:p.Gln521Ter",
        "hgvsWellDefined": "NP_006493.1:p.Gln521_His713delinsThrSerGlnSerThrGlyThrGluProPhePheLysGlnLysSerLeuLeuLeuLysGlnLysGlnLeuAsnAsnSerSerValSerSerProGlnGlnAsnProTrpSerAsnCysLysAlaLeuProAsnSerLeuProThrGluTyrProGlyCysValProValCysGluGlyValSerLysLeuGluGluSerSerLysAlaThrProAlaGluMetAspLeuAlaHisAsnSerGlnSerMetHisAlaSerSerAlaSerLysSerValLeuGluValThrGlnLysAlaThrProAsnProSerLeuLeuAlaAlaGluAspGlnValProCysGluLysCysGlySerLeuValProValTrpAspMetProGluHisMetAspTyrHisPheAlaLeuGluLeuGlnLysSerPheLeuGlnProHisSerSerAsnProGlnValValSerAlaValSerHisGlnGlyLysArgAsnProLysSerProLeuAlaCysThrAsnLysArgProArgProGluGlyMetGlnThrLeuGluSerPhePheLysProLeuThrHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696730",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372236.9:c.1561C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006502.3:c.1561C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361310.4:p.Gln521Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006493.1:p.Gln521Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 966,
          "endIntronDirection": "+",
          "endIntronOffset": 84705,
          "referenceAllele": "C",
          "start": 966,
          "startIntronDirection": "+",
          "startIntronOffset": 84704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020194",
      "geneNCBI_id": 9533,
      "geneSymbol": "POLR1C",
      "hgvs": [
        "NM_001318876.2:c.945+84705C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305805.1:n.945+84705C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717620"
    }
  ],
  "type": "nucleotide"
}