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          "end": 861,
          "referenceAllele": "C",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382636.1:c.721C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369565.1:p.Gln241Ter",
        "hgvsWellDefined": "NP_001369565.1:p.Gln241_His389delinsAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722480"
    }
  ],
  "type": "nucleotide"
}