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        "hgvsWellDefined": "NP_079413.3:p.Tyr2385_Gly2443delinsLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670903",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261866.12:c.7155T>G"
          },
          "RefSeq": {
            "hgvs": "NM_025137.4:c.7155T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261866.7:p.Tyr2385Ter"
          },
          "RefSeq": {
            "hgvs": "NP_079413.3:p.Tyr2385Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825948670",
      "coordinates": [
        {
          "allele": "G",
          "end": 6831,
          "referenceAllele": "T",
          "start": 6830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_001160227.2:c.6816T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153699.1:p.Tyr2272Ter",
        "hgvsWellDefined": "NP_001153699.1:p.Tyr2272_Gly2330delinsLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678139"
    }
  ],
  "type": "nucleotide"
}