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      "geneNCBI_id": 5538,
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        "hgvsWellDefined": "ENSP00000432053.1:p.Gln107_Gly306delinsGlyTyrAsnAlaMetGlyPheSerGlnGlyGlyGlnPheLeuArgAlaValAlaGlnArgCysProSerProProMetIleAsnLeuIleSerValGlyGlyGlnHisGlnGlyValPheGlyLeuProArgCysProGlyGluSerSerHisIleCysAspPheIleArgLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluTrpPheGlyPheTyrArgSerGlyGlnAlaLysGluThrIleProLeuGlnGluThrSerLeuTyrThrGlnAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
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    },
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        {
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          "referenceAllele": "C",
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        "hgvsWellDefined": "NP_000301.1:p.Gln107_Gly306delinsGlyTyrAsnAlaMetGlyPheSerGlnGlyGlyGlnPheLeuArgAlaValAlaGlnArgCysProSerProProMetIleAsnLeuIleSerValGlyGlyGlnHisGlnGlyValPheGlyLeuProArgCysProGlyGluSerSerHisIleCysAspPheIleArgLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluTrpPheGlyPheTyrArgSerGlyGlnAlaLysGluThrIleProLeuGlnGluThrSerLeuTyrThrGlnAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006372"
    },
    {
      "coordinates": [
        {
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          "end": 356,
          "endIntronDirection": "-",
          "endIntronOffset": 2578,
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          "startIntronOffset": 2579
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      "proteinEffect": {
        "hgvs": "NP_001136076.1:n.125-2579C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS012999"
    },
    {
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      ],
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      "hgvs": [
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        "hgvsWellDefined": "XP_005271065.1:p.Gln107_Gly282delinsGlyTyrAsnAlaMetGlyPheSerGlnGlyGlyGlnPheLeuArgAlaValAlaGlnArgCysProSerProProMetIleAsnLeuIleSerValGlyGlyGlnHisGlnGlyValPheGlyLeuProArgCysProGlyGluSerSerHisIleCysAspPheIleArgLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741869726",
      "coordinates": [
        {
          "allele": "T",
          "end": 548,
          "referenceAllele": "C",
          "start": 547
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      ],
      "gene": "http://reg.genome.network/gene/GN009325",
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001350624.1:p.Gln107_Gly282delinsGlyTyrAsnAlaMetGlyPheSerGlnGlyGlyGlnPheLeuArgAlaValAlaGlnArgCysProSerProProMetIleAsnLeuIleSerValGlyGlyGlnHisGlnGlyValPheGlyLeuProArgCysProGlyGluSerSerHisIleCysAspPheIleArgLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523489"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825115938",
      "coordinates": [
        {
          "allele": "T",
          "end": 330,
          "referenceAllele": "C",
          "start": 329
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      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
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        "NM_000310.4:c.316C>T"
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        "hgvsWellDefined": "NP_000301.1:p.Gln107_Gly306delinsGlyTyrAsnAlaMetGlyPheSerGlnGlyGlyGlnPheLeuArgAlaValAlaGlnArgCysProSerProProMetIleAsnLeuIleSerValGlyGlyGlnHisGlnGlyValPheGlyLeuProArgCysProGlyGluSerSerHisIleCysAspPheIleArgLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluTrpPheGlyPheTyrArgSerGlyGlnAlaLysGluThrIleProLeuGlnGluThrSerLeuTyrThrGlnAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674784",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642050.2:c.316C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000310.4:c.316C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493153.1:p.Gln106Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000301.1:p.Gln106Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "endIntronDirection": "-",
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          "start": 138,
          "startIntronDirection": "-",
          "startIntronOffset": 2579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001142604.2:c.125-2579C>T"
      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741869726",
      "coordinates": [
        {
          "allele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001363695.2:c.316C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350624.1:p.Gln106Ter",
        "hgvsWellDefined": "NP_001350624.1:p.Gln107_Gly282delinsGlyTyrAsnAlaMetGlyPheSerGlnGlyGlyGlnPheLeuArgAlaValAlaGlnArgCysProSerProProMetIleAsnLeuIleSerValGlyGlyGlnHisGlnGlyValPheGlyLeuProArgCysProGlyGluSerSerHisIleCysAspPheIleArgLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690744"
    }
  ],
  "type": "nucleotide"
}