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      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_000310.4:c.741C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000301.1:p.Tyr247Ter",
        "hgvsWellDefined": "NP_000301.1:p.Tyr247_Gly306delinsArgSerGlyGlnAlaLysGluThrIleProLeuGlnGluThrSerLeuTyrThrGlnAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674784",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642050.2:c.741C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000310.4:c.741C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493153.1:p.Tyr247Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000301.1:p.Tyr247Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825805428",
      "coordinates": [
        {
          "allele": "G",
          "end": 446,
          "referenceAllele": "C",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001142604.2:c.432C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136076.1:p.Tyr144Ter",
        "hgvsWellDefined": "NP_001136076.1:p.Tyr144_Gly203delinsArgSerGlyGlnAlaLysGluThrIleProLeuGlnGluThrSerLeuTyrThrGlnAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677588"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 740,
          "endIntronDirection": "+",
          "endIntronOffset": 1661,
          "referenceAllele": "C",
          "start": 740,
          "startIntronDirection": "+",
          "startIntronOffset": 1660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001363695.2:c.726+1661C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350624.1:n.726+1661C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690744"
    }
  ],
  "type": "nucleotide"
}