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      "proteinEffect": {
        "hgvs": "NP_001121077.1:p.Gln136Ter",
        "hgvsWellDefined": "NP_001121077.1:p.Gln136_Gln399delinsAspGluPheTrpAlaPheSerTyrAspGluMetAlaLysTyrAspLeuProAlaSerIleAsnPheIleLeuAsnLysThrGlyGlnGluGlnValTyrTyrValGlyHisSerGlnGlyThrThrIleGlyPheIleAlaPheSerGlnIleProGluLeuAlaLysArgIleLysMetPhePheAlaLeuGlyProValAlaSerValAlaPheCysThrSerProMetAlaLysLeuGlyArgLeuProAspHisLeuIleLysAspLeuPheGlyAspLysGluPheLeuProGlnSerAlaPheLeuLysTrpLeuGlyThrHisValCysThrHisValIleLeuLysGluLeuCysGlyAsnLeuCysPheLeuLeuCysGlyPheAsnGluArgAsnLeuAsnMetSerArgValAspValTyrThrThrHisSerProAlaGlyThrSerValGlnAsnMetLeuHisTrpSerGlnAlaValLysPheGlnLysPheGlnAlaPheAspTrpGlySerSerAlaLysAsnTyrPheHisTyrAsnGlnSerTyrProProThrTyrAsnValLysAspMetLeuValProThrAlaValTrpSerGlyGlyHisAspTrpLeuAlaAspValTyrAspValAsnIleLeuLeuThrGlnIleThrAsnLeuValPheHisGluSerIleProGluTrpGluHisLeuAspPheIleTrpGlyLeuAspAlaProTrpArgLeuTyrAsnLysIleIleAsnLeuMetArgLysTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139693921",
      "coordinates": [
        {
          "allele": "T",
          "end": 216,
          "referenceAllele": "C",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "NM_001288979.2:c.58C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275908.1:p.Gln20Ter",
        "hgvsWellDefined": "NP_001275908.1:p.Gln20_Gln283delinsAspGluPheTrpAlaPheSerTyrAspGluMetAlaLysTyrAspLeuProAlaSerIleAsnPheIleLeuAsnLysThrGlyGlnGluGlnValTyrTyrValGlyHisSerGlnGlyThrThrIleGlyPheIleAlaPheSerGlnIleProGluLeuAlaLysArgIleLysMetPhePheAlaLeuGlyProValAlaSerValAlaPheCysThrSerProMetAlaLysLeuGlyArgLeuProAspHisLeuIleLysAspLeuPheGlyAspLysGluPheLeuProGlnSerAlaPheLeuLysTrpLeuGlyThrHisValCysThrHisValIleLeuLysGluLeuCysGlyAsnLeuCysPheLeuLeuCysGlyPheAsnGluArgAsnLeuAsnMetSerArgValAspValTyrThrThrHisSerProAlaGlyThrSerValGlnAsnMetLeuHisTrpSerGlnAlaValLysPheGlnLysPheGlnAlaPheAspTrpGlySerSerAlaLysAsnTyrPheHisTyrAsnGlnSerTyrProProThrTyrAsnValLysAspMetLeuValProThrAlaValTrpSerGlyGlyHisAspTrpLeuAlaAspValTyrAspValAsnIleLeuLeuThrGlnIleThrAsnLeuValPheHisGluSerIleProGluTrpGluHisLeuAspPheIleTrpGlyLeuAspAlaProTrpArgLeuTyrAsnLysIleIleAsnLeuMetArgLysTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716512"
    }
  ],
  "type": "nucleotide"
}