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      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_000310.4:c.114del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000301.1:p.Trp38CysfsTer12",
        "hgvsWellDefined": "NP_000301.1:p.[Trp38_Gly40delinsCys;Asp43_Gly52delinsTrpGluThr;Ile54_Met57del;Glu59_Lys61delinsAla;Gly64_Leu68del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674784",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642050.2:c.114del"
          },
          "RefSeq": {
            "hgvs": "NM_000310.4:c.114del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493153.1:p.Trp38CysfsTer12"
          },
          "RefSeq": {
            "hgvs": "NP_000301.1:p.Trp38CysfsTer12"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 128,
          "referenceAllele": "G",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001142604.2:c.114del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136076.1:p.Trp38CysfsTer27",
        "hgvsWellDefined": "NP_001136076.1:p.[Trp38_His39delinsCysMet;Met41_Gly42delinsTrp;Gly45_Gly51delinsLeuAspSerLeuAspAlaGln;Ser53_Lys62delinsArgAlaLeuThrSerVal;Leu64_Ala68delinsSerSerGluLysHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677588"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 128,
          "referenceAllele": "G",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001363695.2:c.114del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350624.1:p.Trp38CysfsTer12",
        "hgvsWellDefined": "NP_001350624.1:p.[Trp38_Gly40delinsCys;Asp43_Gly52delinsTrpGluThr;Ile54_Met57del;Glu59_Lys61delinsAla;Gly64_Leu68del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690744"
    }
  ],
  "type": "nucleotide"
}