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        "hgvsWellDefined": "ENSP00000432053.1:p.Tyr109_Gly306delinsAsnAlaMetGlyPheSerGlnGlyGlyGlnPheLeuArgAlaValAlaGlnArgCysProSerProProMetIleAsnLeuIleSerValGlyGlyGlnHisGlnGlyValPheGlyLeuProArgCysProGlyGluSerSerHisIleCysAspPheIleArgLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluTrpPheGlyPheTyrArgSerGlyGlnAlaLysGluThrIleProLeuGlnGluThrSerLeuTyrThrGlnAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355240"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 341,
          "referenceAllele": "C",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000530704.5:c.327C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431655.1:p.Tyr109Ter",
        "hgvsWellDefined": "ENSP00000431655.1:p.Tyr109_Ala148delinsAsnAlaMetGlyPheSerGlnGlyGlyGlnPheLeuArgAlaValAlaGlnArgCysProSerProProMetIleAsnLeuIleSerValGlyGlyGlnHisGlnValProCysAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355912"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645510123",
      "coordinates": [
        {
          "allele": "G",
          "end": 559,
          "referenceAllele": "C",
          "start": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_000310.3:c.327C>G",
        "LRG_690t1:c.327C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000301.1:p.Tyr109Ter",
        "hgvsWellDefined": "NP_000301.1:p.Tyr109_Gly306delinsAsnAlaMetGlyPheSerGlnGlyGlyGlnPheLeuArgAlaValAlaGlnArgCysProSerProProMetIleAsnLeuIleSerValGlyGlyGlnHisGlnGlyValPheGlyLeuProArgCysProGlyGluSerSerHisIleCysAspPheIleArgLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluTrpPheGlyPheTyrArgSerGlyGlnAlaLysGluThrIleProLeuGlnGluThrSerLeuTyrThrGlnAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006372"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 356,
          "endIntronDirection": "-",
          "endIntronOffset": 2567,
          "referenceAllele": "C",
          "start": 356,
          "startIntronDirection": "-",
          "startIntronOffset": 2568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001142604.1:c.125-2568C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136076.1:n.125-2568C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012999"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 343,
          "referenceAllele": "C",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "XM_005271008.1:c.327C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271065.1:p.Tyr109Ter",
        "hgvsWellDefined": "XP_005271065.1:p.Tyr109_Gly282delinsAsnAlaMetGlyPheSerGlnGlyGlyGlnPheLeuArgAlaValAlaGlnArgCysProSerProProMetIleAsnLeuIleSerValGlyGlyGlnHisGlnGlyValPheGlyLeuProArgCysProGlyGluSerSerHisIleCysAspPheIleArgLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916043969",
      "coordinates": [
        {
          "allele": "G",
          "end": 559,
          "referenceAllele": "C",
          "start": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001363695.1:c.327C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350624.1:p.Tyr109Ter",
        "hgvsWellDefined": "NP_001350624.1:p.Tyr109_Gly282delinsAsnAlaMetGlyPheSerGlnGlyGlyGlnPheLeuArgAlaValAlaGlnArgCysProSerProProMetIleAsnLeuIleSerValGlyGlyGlnHisGlnGlyValPheGlyLeuProArgCysProGlyGluSerSerHisIleCysAspPheIleArgLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523489"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645510123",
      "coordinates": [
        {
          "allele": "G",
          "end": 341,
          "referenceAllele": "C",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_000310.4:c.327C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000301.1:p.Tyr109Ter",
        "hgvsWellDefined": "NP_000301.1:p.Tyr109_Gly306delinsAsnAlaMetGlyPheSerGlnGlyGlyGlnPheLeuArgAlaValAlaGlnArgCysProSerProProMetIleAsnLeuIleSerValGlyGlyGlnHisGlnGlyValPheGlyLeuProArgCysProGlyGluSerSerHisIleCysAspPheIleArgLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluTrpPheGlyPheTyrArgSerGlyGlnAlaLysGluThrIleProLeuGlnGluThrSerLeuTyrThrGlnAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674784",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642050.2:c.327C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000310.4:c.327C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493153.1:p.Tyr109Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000301.1:p.Tyr109Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 138,
          "endIntronDirection": "-",
          "endIntronOffset": 2567,
          "referenceAllele": "C",
          "start": 138,
          "startIntronDirection": "-",
          "startIntronOffset": 2568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001142604.2:c.125-2568C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136076.1:n.125-2568C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916043969",
      "coordinates": [
        {
          "allele": "G",
          "end": 341,
          "referenceAllele": "C",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001363695.2:c.327C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350624.1:p.Tyr109Ter",
        "hgvsWellDefined": "NP_001350624.1:p.Tyr109_Gly282delinsAsnAlaMetGlyPheSerGlnGlyGlyGlnPheLeuArgAlaValAlaGlnArgCysProSerProProMetIleAsnLeuIleSerValGlyGlyGlnHisGlnGlyValPheGlyLeuProArgCysProGlyGluSerSerHisIleCysAspPheIleArgLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690744"
    }
  ],
  "type": "nucleotide"
}