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          "end": 2336,
          "endIntronDirection": "+",
          "endIntronOffset": 1203,
          "referenceAllele": "A",
          "start": 2336,
          "startIntronDirection": "+",
          "startIntronOffset": 1202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NM_001282224.2:c.2172+1203A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001269153.1:n.2172+1203A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715769"
    }
  ],
  "type": "nucleotide"
}