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          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 709,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024946.2:c.446+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020117.1:n.446+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675649"
    }
  ],
  "type": "nucleotide"
}