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        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_000314.8:c.1003C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000305.3:p.Arg335Gly",
        "hgvsWellDefined": "NP_000305.3:p.Arg335Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371953.8:c.1003C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000314.8:c.1003C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361021.3:p.Arg335Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000305.3:p.Arg335Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}