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        "hgvsWellDefined": "NP_001121077.1:p.Trp140_Gln399delinsAlaPheSerTyrAspGluMetAlaLysTyrAspLeuProAlaSerIleAsnPheIleLeuAsnLysThrGlyGlnGluGlnValTyrTyrValGlyHisSerGlnGlyThrThrIleGlyPheIleAlaPheSerGlnIleProGluLeuAlaLysArgIleLysMetPhePheAlaLeuGlyProValAlaSerValAlaPheCysThrSerProMetAlaLysLeuGlyArgLeuProAspHisLeuIleLysAspLeuPheGlyAspLysGluPheLeuProGlnSerAlaPheLeuLysTrpLeuGlyThrHisValCysThrHisValIleLeuLysGluLeuCysGlyAsnLeuCysPheLeuLeuCysGlyPheAsnGluArgAsnLeuAsnMetSerArgValAspValTyrThrThrHisSerProAlaGlyThrSerValGlnAsnMetLeuHisTrpSerGlnAlaValLysPheGlnLysPheGlnAlaPheAspTrpGlySerSerAlaLysAsnTyrPheHisTyrAsnGlnSerTyrProProThrTyrAsnValLysAspMetLeuValProThrAlaValTrpSerGlyGlyHisAspTrpLeuAlaAspValTyrAspValAsnIleLeuLeuThrGlnIleThrAsnLeuValPheHisGluSerIleProGluTrpGluHisLeuAspPheIleTrpGlyLeuAspAlaProTrpArgLeuTyrAsnLysIleIleAsnLeuMetArgLysTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916017140",
      "coordinates": [
        {
          "allele": "A",
          "end": 230,
          "referenceAllele": "G",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "NM_001288979.2:c.72G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275908.1:p.Trp24Ter",
        "hgvsWellDefined": "NP_001275908.1:p.Trp24_Gln283delinsAlaPheSerTyrAspGluMetAlaLysTyrAspLeuProAlaSerIleAsnPheIleLeuAsnLysThrGlyGlnGluGlnValTyrTyrValGlyHisSerGlnGlyThrThrIleGlyPheIleAlaPheSerGlnIleProGluLeuAlaLysArgIleLysMetPhePheAlaLeuGlyProValAlaSerValAlaPheCysThrSerProMetAlaLysLeuGlyArgLeuProAspHisLeuIleLysAspLeuPheGlyAspLysGluPheLeuProGlnSerAlaPheLeuLysTrpLeuGlyThrHisValCysThrHisValIleLeuLysGluLeuCysGlyAsnLeuCysPheLeuLeuCysGlyPheAsnGluArgAsnLeuAsnMetSerArgValAspValTyrThrThrHisSerProAlaGlyThrSerValGlnAsnMetLeuHisTrpSerGlnAlaValLysPheGlnLysPheGlnAlaPheAspTrpGlySerSerAlaLysAsnTyrPheHisTyrAsnGlnSerTyrProProThrTyrAsnValLysAspMetLeuValProThrAlaValTrpSerGlyGlyHisAspTrpLeuAlaAspValTyrAspValAsnIleLeuLeuThrGlnIleThrAsnLeuValPheHisGluSerIleProGluTrpGluHisLeuAspPheIleTrpGlyLeuAspAlaProTrpArgLeuTyrAsnLysIleIleAsnLeuMetArgLysTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716512"
    }
  ],
  "type": "nucleotide"
}