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      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "NM_000303.3:c.560G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000294.1:p.Trp187Ter",
        "hgvsWellDefined": "NP_000294.1:p.Trp187_Ser246delinsAspLysArgTyrCysLeuArgHisValGluAsnAspGlyTyrLysThrIleTyrPhePheGlyAspLysThrMetProGlyGlyAsnAspHisGluIlePheThrAspProArgThrMetGlyTyrSerValThrAlaProGluAspThrArgArgIleCysGluLeuLeuPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662394",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268261.9:c.560G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000303.3:c.560G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268261.4:p.Trp187Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000294.1:p.Trp187Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}