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      "geneSymbol": "TSHR",
      "hgvs": [
        "NM_000369.5:c.484C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000360.2:p.Pro162Thr",
        "hgvsWellDefined": "NP_000360.2:p.Pro162Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710830",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298171.7:c.484C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000369.5:c.484C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298171.2:p.Pro162Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000360.2:p.Pro162Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}