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      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "NM_017739.4:c.1365del"
      ],
      "proteinEffect": {
        "hgvs": "NP_060209.4:p.Arg455SerfsTer?",
        "hgvsWellDefined": "NP_060209.4:p.[Arg455_Glu461delinsSerProCysThrArgArgSer;Glu463Ser;Lys465_Glu470delinsSerGlyLeuHisArg;Leu472_Arg485delinsSerSerGlyIleGlyThrCysGlyCysGlyCysLeuAsnAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728258",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371984.8:c.1365del"
          },
          "RefSeq": {
            "hgvs": "NM_017739.4:c.1365del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361052.3:p.Arg455SerfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_060209.4:p.Arg455SerfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}