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          "endIntronDirection": "-",
          "endIntronOffset": 2607,
          "referenceAllele": "G",
          "start": 138,
          "startIntronDirection": "-",
          "startIntronOffset": 2608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001142604.2:c.125-2608G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136076.1:n.125-2608G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916043966",
      "coordinates": [
        {
          "allele": "A",
          "end": 301,
          "referenceAllele": "G",
          "start": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001363695.2:c.287G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350624.1:p.Cys96Tyr",
        "hgvsWellDefined": "NP_001350624.1:p.Cys96Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690744"
    }
  ],
  "type": "nucleotide"
}