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          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 429,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "NM_014845.6:c.290-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055660.1:n.290-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697365",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000230124.8:c.290-2A>T"
          },
          "RefSeq": {
            "hgvs": "NM_014845.6:c.290-2A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000230124.4:n.290-2A>T"
          },
          "RefSeq": {
            "hgvs": "NP_055660.1:n.290-2A>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}