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        "hgvsWellDefined": "NP_001350624.1:p.[Trp17_Cys19del;Ser21_Ala23del;Gln25_His26del;Asp28_Val36delinsGlyArgCysSer;His39_Ser44delinsThrArgArgArgArg;Cys46_Pro48delinsArgTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523489"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 68,
          "referenceAllele": "GGACCAT",
          "start": 61
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_000310.4:c.48_54del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000301.1:p.Trp17AlafsTer18",
        "hgvsWellDefined": "NP_000301.1:p.[Trp17_Cys19del;Ser21_Ala23del;Gln25_His26del;Asp28_Val36delinsGlyArgCysSer;His39_Ser44delinsThrArgArgArgArg;Cys46_Pro48delinsArgTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674784",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642050.2:c.48_54del"
          },
          "RefSeq": {
            "hgvs": "NM_000310.4:c.48_54del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493153.1:p.Trp17AlafsTer18"
          },
          "RefSeq": {
            "hgvs": "NP_000301.1:p.Trp17AlafsTer18"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 68,
          "referenceAllele": "GGACCAT",
          "start": 61
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001142604.2:c.48_54del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136076.1:p.Trp17AlafsTer18",
        "hgvsWellDefined": "NP_001136076.1:p.[Trp17_Cys19del;Ser21_Ala23del;Gln25_His26del;Asp28_Val36delinsGlyArgCysSer;His39_Arg48delinsThrArgArgArgArgCysArgTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677588"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 68,
          "referenceAllele": "GGACCAT",
          "start": 61
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001363695.2:c.48_54del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350624.1:p.Trp17AlafsTer18",
        "hgvsWellDefined": "NP_001350624.1:p.[Trp17_Cys19del;Ser21_Ala23del;Gln25_His26del;Asp28_Val36delinsGlyArgCysSer;His39_Ser44delinsThrArgArgArgArg;Cys46_Pro48delinsArgTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690744"
    }
  ],
  "type": "nucleotide"
}