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          "referenceAllele": "C",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181460.4:c.811C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852125.1:p.Arg271Cys",
        "hgvsWellDefined": "NP_852125.1:p.Arg271Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700949"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916077435",
      "coordinates": [
        {
          "allele": "T",
          "end": 1194,
          "referenceAllele": "C",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NM_181461.4:c.811C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852126.1:p.Arg271Cys",
        "hgvsWellDefined": "NP_852126.1:p.Arg271Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700950"
    }
  ],
  "type": "nucleotide"
}