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      "geneSymbol": "AIP",
      "hgvs": [
        "NM_001302960.2:c.649C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289889.1:p.Gln217Ter",
        "hgvsWellDefined": "NP_001289889.1:p.Gln217_Gly283delinsProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysGlnArgGlnGlyLeuLeuGlnAlaGlyGlnGlyProArgGlyArgValGluCysProGlyGlyProGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683502"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826875438",
      "coordinates": [
        {
          "allele": "T",
          "end": 745,
          "referenceAllele": "C",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "NM_001302959.2:c.472C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289888.1:p.Gln158Ter",
        "hgvsWellDefined": "NP_001289888.1:p.Gln158_His271delinsProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspAspAsnValLysAlaTyrPheLysArgGlyLysAlaHisAlaAlaValTrpAsnAlaGlnGluAlaGlnAlaAspPheAlaLysValLeuGluLeuAspProAlaLeuAlaProValValSerArgGluLeuArgAlaLeuGluAlaArgIleArgGlnLysAspGluGluAspLysAlaArgPheArgGlyIlePheSerHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717004"
    }
  ],
  "type": "nucleotide"
}