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        "hgvs": "NP_001309421.1:p.Ile56del",
        "hgvsWellDefined": "NP_001309421.1:p.Ile56del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718235"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139749045",
      "coordinates": [
        {
          "allele": "",
          "end": 411,
          "referenceAllele": "CAT",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005163",
      "geneNCBI_id": 3257,
      "geneSymbol": "HPS1",
      "hgvs": [
        "NM_182639.4:c.166_168del"
      ],
      "proteinEffect": {
        "hgvs": "NP_872577.1:p.Ile56del",
        "hgvsWellDefined": "NP_872577.1:p.Ile56del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729779"
    }
  ],
  "type": "nucleotide"
}