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          "end": 867,
          "referenceAllele": "G",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "NM_000391.4:c.845G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000382.3:p.Ser282Ile",
        "hgvsWellDefined": "NP_000382.3:p.Ser282Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662423",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299427.12:c.845G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000391.4:c.845G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299427.6:p.Ser282Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000382.3:p.Ser282Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}