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      "hgvs": [
        "NM_001142604.1:c.328G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136076.1:p.Glu110Ter",
        "hgvsWellDefined": "NP_001136076.1:p.Glu110_Gly203delinsSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluTrpPheGlyPheTyrArgSerGlyGlnAlaLysGluThrIleProLeuGlnGluThrSerLeuTyrThrGlnAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 653,
          "referenceAllele": "G",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "XM_005271008.1:c.637G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271065.1:p.Glu213Ter",
        "hgvsWellDefined": "XP_005271065.1:p.Glu213_Gly282delinsSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741869739",
      "coordinates": [
        {
          "allele": "T",
          "end": 869,
          "referenceAllele": "G",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001363695.1:c.637G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350624.1:p.Glu213Ter",
        "hgvsWellDefined": "NP_001350624.1:p.Glu213_Gly282delinsSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523489"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825116131",
      "coordinates": [
        {
          "allele": "T",
          "end": 651,
          "referenceAllele": "G",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_000310.4:c.637G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000301.1:p.Glu213Ter",
        "hgvsWellDefined": "NP_000301.1:p.Glu213_Gly306delinsSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluTrpPheGlyPheTyrArgSerGlyGlnAlaLysGluThrIleProLeuGlnGluThrSerLeuTyrThrGlnAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674784",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642050.2:c.637G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000310.4:c.637G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493153.1:p.Glu213Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000301.1:p.Glu213Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825805358",
      "coordinates": [
        {
          "allele": "T",
          "end": 342,
          "referenceAllele": "G",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001142604.2:c.328G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136076.1:p.Glu110Ter",
        "hgvsWellDefined": "NP_001136076.1:p.Glu110_Gly203delinsSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluTrpPheGlyPheTyrArgSerGlyGlnAlaLysGluThrIleProLeuGlnGluThrSerLeuTyrThrGlnAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741869739",
      "coordinates": [
        {
          "allele": "T",
          "end": 651,
          "referenceAllele": "G",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001363695.2:c.637G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350624.1:p.Glu213Ter",
        "hgvsWellDefined": "NP_001350624.1:p.Glu213_Gly282delinsSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690744"
    }
  ],
  "type": "nucleotide"
}