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        "hgvsWellDefined": "NP_000434.1:p.Arg969Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674848",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649586.2:c.2906G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000443.4:c.2906G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496956.2:p.Arg969Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000434.1:p.Arg969Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2959,
          "referenceAllele": "G",
          "start": 2958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NM_018849.3:c.2906G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_061337.1:p.Arg969Pro",
        "hgvsWellDefined": "NP_061337.1:p.Arg969Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698090"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2836,
          "endIntronDirection": "+",
          "endIntronOffset": 1706,
          "referenceAllele": "G",
          "start": 2836,
          "startIntronDirection": "+",
          "startIntronOffset": 1705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NM_018850.3:c.2783+1706G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_061338.1:n.2783+1706G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728359"
    }
  ],
  "type": "nucleotide"
}