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      "geneSymbol": "TCOF1",
      "hgvs": [
        "NM_001195141.2:c.4006G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182070.1:p.Glu1336Ter",
        "hgvsWellDefined": "NP_001182070.1:p.Glu1336_Val1450delinsAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679284"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828446007",
      "coordinates": [
        {
          "allele": "T",
          "end": 4173,
          "referenceAllele": "G",
          "start": 4172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NM_001371623.1:c.4123G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358552.1:p.Glu1375Ter",
        "hgvsWellDefined": "NP_001358552.1:p.Glu1375_Val1489delinsAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692996",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000643257.2:c.4123G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001371623.1:c.4123G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493815.1:p.Glu1375Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001358552.1:p.Glu1375Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825791010",
      "coordinates": [
        {
          "allele": "T",
          "end": 4170,
          "referenceAllele": "G",
          "start": 4169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NM_001135243.2:c.4120G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128715.1:p.Glu1374Ter",
        "hgvsWellDefined": "NP_001128715.1:p.Glu1374_Val1488delinsAlaSerValSerProGluLysThrSerThrThrSerLysGlyLysAlaLysArgAspLysAlaSerGlyAspValLysGluLysLysGlyLysGlySerLeuGlySerGlnGlyAlaLysAspGluProGluGluGluLeuGlnLysGlyMetGlyThrValGluGlyGlyAspGlnSerAsnProLysSerLysLysGluLysLysLysSerAspLysArgLysLysAspLysGluLysLysGluLysLysLysLysAlaLysLysAlaSerThrLysAspSerGluSerProSerGlnLysLysLysLysLysLysLysLysThrAlaGluGlnThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712433"
    }
  ],
  "type": "nucleotide"
}