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          "referenceAllele": "C",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020194",
      "geneNCBI_id": 9533,
      "geneSymbol": "POLR1C",
      "hgvs": [
        "NM_203290.3:c.699C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_976035.1:p.Tyr233Ter",
        "hgvsWellDefined": "NP_976035.1:p.Tyr233_Asp346delinsArgLeuLeuProAspIleThrLeuLeuGluProValGluGlyGluAlaAlaGluGluLeuSerArgCysPheSerProGlyValIleGluValGlnGluValGlnGlyLysLysValAlaArgValAlaAsnProArgLeuAspThrPheSerArgGluIlePheArgAsnGluLysLeuLysLysValValArgLeuAlaArgValArgAspHisTyrIlePheSerValGluSerThrGlyValLeuProProAspValLeuValSerGluAlaIleLysValLeuMetGlyLysCysArgArgPheLeuAspGluLeuAspAlaValGlnMetAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS527016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645429235",
      "coordinates": [
        {
          "allele": "A",
          "end": 720,
          "referenceAllele": "C",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020194",
      "geneNCBI_id": 9533,
      "geneSymbol": "POLR1C",
      "hgvs": [
        "NM_203290.4:c.699C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_976035.1:p.Tyr233Ter",
        "hgvsWellDefined": "NP_976035.1:p.Tyr233_Asp346delinsArgLeuLeuProAspIleThrLeuLeuGluProValGluGlyGluAlaAlaGluGluLeuSerArgCysPheSerProGlyValIleGluValGlnGluValGlnGlyLysLysValAlaArgValAlaAsnProArgLeuAspThrPheSerArgGluIlePheArgAsnGluLysLeuLysLysValValArgLeuAlaArgValArgAspHisTyrIlePheSerValGluSerThrGlyValLeuProProAspValLeuValSerGluAlaIleLysValLeuMetGlyLysCysArgArgPheLeuAspGluLeuAspAlaValGlnMetAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673224",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642195.1:c.699C>A"
          },
          "RefSeq": {
            "hgvs": "NM_203290.4:c.699C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496044.1:p.Tyr233Ter"
          },
          "RefSeq": {
            "hgvs": "NP_976035.1:p.Tyr233Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828101640",
      "coordinates": [
        {
          "allele": "A",
          "end": 720,
          "referenceAllele": "C",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020194",
      "geneNCBI_id": 9533,
      "geneSymbol": "POLR1C",
      "hgvs": [
        "NM_001363658.2:c.699C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350587.1:p.Tyr233Ter",
        "hgvsWellDefined": "NP_001350587.1:p.Tyr233_Ile307delinsArgLeuLeuProAspIleThrLeuLeuGluProValGluGlyGluAlaAlaGluGluLeuSerArgCysPheSerProGlyValIleGluValGlnGluValGlnGlyLysLysValAlaArgValAlaAsnProArgLeuAspThrPheSerArgGluIlePheArgAsnGluLysLeuLysLysValValArgLeuAlaArgValArgAspHisTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827023256",
      "coordinates": [
        {
          "allele": "A",
          "end": 720,
          "referenceAllele": "C",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020194",
      "geneNCBI_id": 9533,
      "geneSymbol": "POLR1C",
      "hgvs": [
        "NM_001318876.2:c.699C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305805.1:p.Tyr233Ter",
        "hgvsWellDefined": "NP_001305805.1:p.Tyr233_Gly342delinsArgLeuLeuProAspIleThrLeuLeuGluProValGluGlyGluAlaAlaGluGluLeuSerArgCysPheSerProGlyValIleGluValGlnGluValGlnGlyLysLysValAlaArgValAlaAsnProArgLeuAspThrPheSerArgGluIlePheArgAsnGluLysLeuLysLysValValArgLeuAlaArgValArgAspHisTyrIleCysLysLysAspLeuLeuAlaAlaValAlaHisThrCysAsnProSerThrLeuGlyGlyGlnGlyGluTrpIleThrGlySerArgGluArgAspHisProGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717620"
    }
  ],
  "type": "nucleotide"
}