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          "end": 1594,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1594,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NM_014140.4:c.1335-7C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054859.2:n.1335-7C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697187",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357276.9:c.1335-7C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014140.4:c.1335-7C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349823.4:n.1335-7C>T"
          },
          "RefSeq": {
            "hgvs": "NP_054859.2:n.1335-7C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}