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      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178009.3:c.1318G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171480.1:p.Glu440Ter",
        "hgvsWellDefined": "NP_001171480.1:p.Glu440_Lys551delinsLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678912"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826133089",
      "coordinates": [
        {
          "allele": "T",
          "end": 1555,
          "referenceAllele": "G",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001178008.3:c.1318G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171479.1:p.Glu440Ter",
        "hgvsWellDefined": "NP_001171479.1:p.Glu440_Lys551delinsLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741863229",
      "coordinates": [
        {
          "allele": "T",
          "end": 1576,
          "referenceAllele": "G",
          "start": 1575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001550",
      "geneNCBI_id": 875,
      "geneSymbol": "CBS",
      "hgvs": [
        "NM_001320298.2:c.1318G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307227.1:p.Glu440Ter",
        "hgvsWellDefined": "NP_001307227.1:p.Glu440_Lys551delinsLysGlyPheAspGlnAlaProValValAspGluAlaGlyValIleLeuGlyMetValThrLeuGlyAsnMetLeuSerSerLeuLeuAlaGlyLysValGlnProSerAspGlnValGlyLysValIleTyrLysGlnPheLysGlnIleArgLeuThrAspThrLeuGlyArgLeuSerHisIleLeuGluMetAspHisPheAlaLeuValValHisGluGlnIleGlnTyrHisSerThrGlyLysSerSerGlnArgGlnMetValPheGlyValValThrAlaIleAspLeuLeuAsnPheValAlaAlaGlnGluArgAspGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717765"
    }
  ],
  "type": "nucleotide"
}