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      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "NM_001042492.3:c.3639_3641del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035957.1:p.Met1214del",
        "hgvsWellDefined": "NP_001035957.1:p.Met1215del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676037",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358273.9:c.3639_3641del"
          },
          "RefSeq": {
            "hgvs": "NM_001042492.3:c.3639_3641del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351015.4:p.Met1214del"
          },
          "RefSeq": {
            "hgvs": "NP_001035957.1:p.Met1214del"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}