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      },
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS073571"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104102"
    },
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS572774"
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572776"
    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666018",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216639.8:c.542C>G"
          },
          "RefSeq": {
            "hgvs": "NM_003384.3:c.542C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216639.3:p.Ser181Ter"
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          "RefSeq": {
            "hgvs": "NP_003375.1:p.Ser181Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}