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        "hgvsWellDefined": "ENSP00000392293.2:p.Trp38_Gly203delinsHisGlyMetGlyValPheGlyLeuProArgCysProGlyGluSerSerHisIleCysAspPheIleArgLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluTrpPheGlyPheTyrArgSerGlyGlnAlaLysGluThrIleProLeuGlnGluThrSerLeuTyrThrGlnAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 123,
          "referenceAllele": "G",
          "start": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000527311.6:c.114G>A"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000436695.2:p.Trp38_Leu205del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 121,
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          "start": 120
        }
      ],
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      "hgvs": [
        "ENST00000529905.5:c.114G>A"
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        "hgvsWellDefined": "ENSP00000432053.1:p.Trp38_Gly306delinsHisGlyMetGlyAspSerCysCysAsnProLeuSerMetGlyAlaIleLysLysMetValGluLysLysIleProGlyIleTyrValLeuSerLeuGluIleGlyLysThrLeuMetGluAspValGluAsnSerPhePheLeuAsnValAsnSerGlnValThrThrValCysGlnAlaLeuAlaLysAspProLysLeuGlnGlnGlyTyrAsnAlaMetGlyPheSerGlnGlyGlyGlnPheLeuArgAlaValAlaGlnArgCysProSerProProMetIleAsnLeuIleSerValGlyGlyGlnHisGlnGlyValPheGlyLeuProArgCysProGlyGluSerSerHisIleCysAspPheIleArgLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluTrpPheGlyPheTyrArgSerGlyGlnAlaLysGluThrIleProLeuGlnGluThrSerLeuTyrThrGlnAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355240"
    },
    {
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        {
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          "end": 128,
          "referenceAllele": "G",
          "start": 127
        }
      ],
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      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000530704.5:c.114G>A"
      ],
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        "hgvs": "ENSP00000431655.1:p.Trp38Ter",
        "hgvsWellDefined": "ENSP00000431655.1:p.Trp38_Ala148delinsHisGlyMetGlyAspSerCysCysAsnProLeuSerMetGlyAlaIleLysLysMetValGluLysLysIleProGlyIleTyrValLeuSerLeuGluIleGlyLysThrLeuMetGluAspValGluAsnSerPhePheLeuAsnValAsnSerGlnValThrThrValCysGlnAlaLeuAlaLysAspProLysLeuGlnGlnGlyTyrAsnAlaMetGlyPheSerGlnGlyGlyGlnPheLeuArgAlaValAlaGlnArgCysProSerProProMetIleAsnLeuIleSerValGlyGlyGlnHisGlnValProCysAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355912"
    },
    {
      "@id": "http://reg.genome.network/allele/PA263460",
      "coordinates": [
        {
          "allele": "A",
          "end": 346,
          "referenceAllele": "G",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
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        "NM_000310.3:c.114G>A",
        "LRG_690t1:c.114G>A"
      ],
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        "hgvs": "NP_000301.1:p.Trp38Ter",
        "hgvsWellDefined": "NP_000301.1:p.Trp38_Gly306delinsHisGlyMetGlyAspSerCysCysAsnProLeuSerMetGlyAlaIleLysLysMetValGluLysLysIleProGlyIleTyrValLeuSerLeuGluIleGlyLysThrLeuMetGluAspValGluAsnSerPhePheLeuAsnValAsnSerGlnValThrThrValCysGlnAlaLeuAlaLysAspProLysLeuGlnGlnGlyTyrAsnAlaMetGlyPheSerGlnGlyGlyGlnPheLeuArgAlaValAlaGlnArgCysProSerProProMetIleAsnLeuIleSerValGlyGlyGlnHisGlnGlyValPheGlyLeuProArgCysProGlyGluSerSerHisIleCysAspPheIleArgLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluTrpPheGlyPheTyrArgSerGlyGlnAlaLysGluThrIleProLeuGlnGluThrSerLeuTyrThrGlnAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006372"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825805232",
      "coordinates": [
        {
          "allele": "A",
          "end": 346,
          "referenceAllele": "G",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001142604.1:c.114G>A"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001136076.1:p.Trp38_Gly203delinsHisGlyMetGlyValPheGlyLeuProArgCysProGlyGluSerSerHisIleCysAspPheIleArgLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluTrpPheGlyPheTyrArgSerGlyGlnAlaLysGluThrIleProLeuGlnGluThrSerLeuTyrThrGlnAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012999"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 130,
          "referenceAllele": "G",
          "start": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "XM_005271008.1:c.114G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271065.1:p.Trp38Ter",
        "hgvsWellDefined": "XP_005271065.1:p.Trp38_Gly282delinsHisGlyMetGlyAspSerCysCysAsnProLeuSerMetGlyAlaIleLysLysMetValGluLysLysIleProGlyIleTyrValLeuSerLeuGluIleGlyLysThrLeuMetGluAspValGluAsnSerPhePheLeuAsnValAsnSerGlnValThrThrValCysGlnAlaLeuAlaLysAspProLysLeuGlnGlnGlyTyrAsnAlaMetGlyPheSerGlnGlyGlyGlnPheLeuArgAlaValAlaGlnArgCysProSerProProMetIleAsnLeuIleSerValGlyGlyGlnHisGlnGlyValPheGlyLeuProArgCysProGlyGluSerSerHisIleCysAspPheIleArgLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916043945",
      "coordinates": [
        {
          "allele": "A",
          "end": 346,
          "referenceAllele": "G",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001363695.1:c.114G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350624.1:p.Trp38Ter",
        "hgvsWellDefined": "NP_001350624.1:p.Trp38_Gly282delinsHisGlyMetGlyAspSerCysCysAsnProLeuSerMetGlyAlaIleLysLysMetValGluLysLysIleProGlyIleTyrValLeuSerLeuGluIleGlyLysThrLeuMetGluAspValGluAsnSerPhePheLeuAsnValAsnSerGlnValThrThrValCysGlnAlaLeuAlaLysAspProLysLeuGlnGlnGlyTyrAsnAlaMetGlyPheSerGlnGlyGlyGlnPheLeuArgAlaValAlaGlnArgCysProSerProProMetIleAsnLeuIleSerValGlyGlyGlnHisGlnGlyValPheGlyLeuProArgCysProGlyGluSerSerHisIleCysAspPheIleArgLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523489"
    },
    {
      "@id": "http://reg.genome.network/allele/PA263460",
      "coordinates": [
        {
          "allele": "A",
          "end": 128,
          "referenceAllele": "G",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_000310.4:c.114G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000301.1:p.Trp38Ter",
        "hgvsWellDefined": "NP_000301.1:p.Trp38_Gly306delinsHisGlyMetGlyAspSerCysCysAsnProLeuSerMetGlyAlaIleLysLysMetValGluLysLysIleProGlyIleTyrValLeuSerLeuGluIleGlyLysThrLeuMetGluAspValGluAsnSerPhePheLeuAsnValAsnSerGlnValThrThrValCysGlnAlaLeuAlaLysAspProLysLeuGlnGlnGlyTyrAsnAlaMetGlyPheSerGlnGlyGlyGlnPheLeuArgAlaValAlaGlnArgCysProSerProProMetIleAsnLeuIleSerValGlyGlyGlnHisGlnGlyValPheGlyLeuProArgCysProGlyGluSerSerHisIleCysAspPheIleArgLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluTrpPheGlyPheTyrArgSerGlyGlnAlaLysGluThrIleProLeuGlnGluThrSerLeuTyrThrGlnAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674784",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642050.2:c.114G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000310.4:c.114G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493153.1:p.Trp38Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000301.1:p.Trp38Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825805232",
      "coordinates": [
        {
          "allele": "A",
          "end": 128,
          "referenceAllele": "G",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001142604.2:c.114G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136076.1:p.Trp38Ter",
        "hgvsWellDefined": "NP_001136076.1:p.Trp38_Gly203delinsHisGlyMetGlyValPheGlyLeuProArgCysProGlyGluSerSerHisIleCysAspPheIleArgLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluTrpPheGlyPheTyrArgSerGlyGlnAlaLysGluThrIleProLeuGlnGluThrSerLeuTyrThrGlnAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916043945",
      "coordinates": [
        {
          "allele": "A",
          "end": 128,
          "referenceAllele": "G",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001363695.2:c.114G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350624.1:p.Trp38Ter",
        "hgvsWellDefined": "NP_001350624.1:p.Trp38_Gly282delinsHisGlyMetGlyAspSerCysCysAsnProLeuSerMetGlyAlaIleLysLysMetValGluLysLysIleProGlyIleTyrValLeuSerLeuGluIleGlyLysThrLeuMetGluAspValGluAsnSerPhePheLeuAsnValAsnSerGlnValThrThrValCysGlnAlaLeuAlaLysAspProLysLeuGlnGlnGlyTyrAsnAlaMetGlyPheSerGlnGlyGlyGlnPheLeuArgAlaValAlaGlnArgCysProSerProProMetIleAsnLeuIleSerValGlyGlyGlnHisGlnGlyValPheGlyLeuProArgCysProGlyGluSerSerHisIleCysAspPheIleArgLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690744"
    }
  ],
  "type": "nucleotide"
}