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      "referenceSequence": "http://reg.genome.network/refseq/RS726706"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 673,
          "endIntronDirection": "-",
          "endIntronOffset": 73865,
          "referenceAllele": "C",
          "start": 673,
          "startIntronDirection": "-",
          "startIntronOffset": 73866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026183",
      "geneNCBI_id": 79772,
      "geneSymbol": "MCTP1",
      "hgvs": [
        "NM_001393551.1:c.511-73866C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001380480.1:n.511-73866C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS726709"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2955,
          "endIntronDirection": "+",
          "endIntronOffset": 15304,
          "referenceAllele": "C",
          "start": 2955,
          "startIntronDirection": "+",
          "startIntronOffset": 15303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026183",
      "geneNCBI_id": 79772,
      "geneSymbol": "MCTP1",
      "hgvs": [
        "NM_024717.7:c.2436+15304C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078993.4:n.2436+15304C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728665",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000515393.6:c.2436+15304C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024717.7:c.2436+15304C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000424126.1:n.2436+15304C>T"
          },
          "RefSeq": {
            "hgvs": "NP_078993.4:n.2436+15304C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}