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          "start": 138,
          "startIntronDirection": "-",
          "startIntronOffset": 2897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001142604.2:c.125-2897A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136076.1:n.125-2897A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916043958",
      "coordinates": [
        {
          "allele": "C",
          "end": 237,
          "referenceAllele": "A",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001363695.2:c.223A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350624.1:p.Thr75Pro",
        "hgvsWellDefined": "NP_001350624.1:p.Thr75Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690744"
    }
  ],
  "type": "nucleotide"
}