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      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "NM_005502.4:c.2543-3C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005493.2:n.2543-3C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666998",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374736.8:c.2543-3C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005502.4:c.2543-3C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363868.3:n.2543-3C>T"
          },
          "RefSeq": {
            "hgvs": "NP_005493.2:n.2543-3C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}