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          "startIntronDirection": "+",
          "startIntronOffset": 139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "NM_001172501.2:c.1489+140C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165972.1:n.1489+140C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678758"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1722,
          "endIntronDirection": "+",
          "endIntronOffset": 140,
          "referenceAllele": "C",
          "start": 1722,
          "startIntronDirection": "+",
          "startIntronOffset": 139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011048",
      "geneNCBI_id": 6530,
      "geneSymbol": "SLC6A2",
      "hgvs": [
        "NM_001172501.3:c.1489+140C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165972.1:n.1489+140C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713428",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000568943.6:c.1489+140C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001172501.3:c.1489+140C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000457473.1:n.1489+140C>A"
          },
          "RefSeq": {
            "hgvs": "NP_001165972.1:n.1489+140C>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}