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        "hgvsWellDefined": "NP_001309413.1:p.[Thr199delinsGlyHis;Met202_Gln213delinsHisGlyCysProSerAspSerArgGlyHisProProAsn;Leu215_Val216delinsGlySer;His218_Cys219delinsLeu;Val221_Gly224delinsCysAlaPheArg;Arg226_Arg227delinsGlnLysAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718229"
    },
    {
      "coordinates": [
        {
          "allele": "GGGG",
          "end": 954,
          "referenceAllele": "",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005163",
      "geneNCBI_id": 3257,
      "geneSymbol": "HPS1",
      "hgvs": [
        "NM_001322485.2:c.491_494dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309414.1:p.Thr166GlyfsTer?",
        "hgvsWellDefined": "NP_001309414.1:p.[Thr166delinsGlyHis;Met169_Gln180delinsHisGlyCysProSerAspSerArgGlyHisProProAsn;Leu182_Val183delinsGlySer;His185_Cys186delinsLeu;Val188_Gly191delinsCysAlaPheArg;Arg193_Arg194delinsGlnLysAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718230"
    },
    {
      "coordinates": [
        {
          "allele": "GGGG",
          "end": 1248,
          "referenceAllele": "",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005163",
      "geneNCBI_id": 3257,
      "geneSymbol": "HPS1",
      "hgvs": [
        "NM_001322487.2:c.-14_-11dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309416.1:n.-14_-11dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718231"
    },
    {
      "coordinates": [
        {
          "allele": "GGGG",
          "end": 1006,
          "referenceAllele": "",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005163",
      "geneNCBI_id": 3257,
      "geneSymbol": "HPS1",
      "hgvs": [
        "NM_001322489.2:c.-14_-11dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309418.1:n.-14_-11dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718232"
    }
  ],
  "type": "nucleotide"
}