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        "ENST00000530704.5:c.*113C>T"
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        "hgvs": "ENSP00000431655.1:n.*113C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS355912"
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      "coordinates": [
        {
          "allele": "T",
          "end": 722,
          "referenceAllele": "C",
          "start": 721
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      ],
      "gene": "http://reg.genome.network/gene/GN009325",
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      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_000310.3:c.490C>T",
        "LRG_690t1:c.490C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000301.1:p.Arg164Ter",
        "hgvsWellDefined": "NP_000301.1:p.Arg164_Gly306delinsLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluTrpPheGlyPheTyrArgSerGlyGlnAlaLysGluThrIleProLeuGlnGluThrSerLeuTyrThrGlnAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006372"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658807856",
      "coordinates": [
        {
          "allele": "T",
          "end": 413,
          "referenceAllele": "C",
          "start": 412
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      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001142604.1:c.181C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136076.1:p.Arg61Ter",
        "hgvsWellDefined": "NP_001136076.1:p.Arg61_Gly203delinsLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluTrpPheGlyPheTyrArgSerGlyGlnAlaLysGluThrIleProLeuGlnGluThrSerLeuTyrThrGlnAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 506,
          "referenceAllele": "C",
          "start": 505
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      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "XM_005271008.1:c.490C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271065.1:p.Arg164Ter",
        "hgvsWellDefined": "XP_005271065.1:p.Arg164_Gly282delinsLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828103361",
      "coordinates": [
        {
          "allele": "T",
          "end": 722,
          "referenceAllele": "C",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001363695.1:c.490C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350624.1:p.Arg164Ter",
        "hgvsWellDefined": "NP_001350624.1:p.Arg164_Gly282delinsLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523489"
    },
    {
      "@id": "http://reg.genome.network/allele/PA263515",
      "coordinates": [
        {
          "allele": "T",
          "end": 504,
          "referenceAllele": "C",
          "start": 503
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      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_000310.4:c.490C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000301.1:p.Arg164Ter",
        "hgvsWellDefined": "NP_000301.1:p.Arg164_Gly306delinsLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluTrpPheGlyPheTyrArgSerGlyGlnAlaLysGluThrIleProLeuGlnGluThrSerLeuTyrThrGlnAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674784",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642050.2:c.490C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000310.4:c.490C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493153.1:p.Arg164Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000301.1:p.Arg164Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA658807856",
      "coordinates": [
        {
          "allele": "T",
          "end": 195,
          "referenceAllele": "C",
          "start": 194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001142604.2:c.181C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136076.1:p.Arg61Ter",
        "hgvsWellDefined": "NP_001136076.1:p.Arg61_Gly203delinsLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluTrpPheGlyPheTyrArgSerGlyGlnAlaLysGluThrIleProLeuGlnGluThrSerLeuTyrThrGlnAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828103361",
      "coordinates": [
        {
          "allele": "T",
          "end": 504,
          "referenceAllele": "C",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001363695.2:c.490C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350624.1:p.Arg164Ter",
        "hgvsWellDefined": "NP_001350624.1:p.Arg164_Gly282delinsLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690744"
    }
  ],
  "type": "nucleotide"
}