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      "gene": "http://reg.genome.network/gene/GN004138",
      "geneNCBI_id": 23193,
      "geneSymbol": "GANAB",
      "hgvs": [
        "NM_001329222.2:c.2158C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316151.1:p.Arg720Trp",
        "hgvsWellDefined": "NP_001316151.1:p.Arg720Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718513"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827266531",
      "coordinates": [
        {
          "allele": "T",
          "end": 2753,
          "referenceAllele": "C",
          "start": 2752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004138",
      "geneNCBI_id": 23193,
      "geneSymbol": "GANAB",
      "hgvs": [
        "NM_001329224.2:c.1726C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316153.1:p.Arg576Trp",
        "hgvsWellDefined": "NP_001316153.1:p.Arg576Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718514"
    }
  ],
  "type": "nucleotide"
}