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      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003988.5:c.239C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003979.2:p.Pro80Leu",
        "hgvsWellDefined": "NP_003979.2:p.Pro80Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696007"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829480157",
      "coordinates": [
        {
          "allele": "T",
          "end": 918,
          "referenceAllele": "C",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003989.5:c.239C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003980.3:p.Pro80Leu",
        "hgvsWellDefined": "NP_003980.3:p.Pro80Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696008"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891865363",
      "coordinates": [
        {
          "allele": "T",
          "end": 918,
          "referenceAllele": "C",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003990.5:c.239C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003981.3:p.Pro80Leu",
        "hgvsWellDefined": "NP_003981.3:p.Pro80Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696009"
    }
  ],
  "type": "nucleotide"
}