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          "allele": "A",
          "end": 373,
          "referenceAllele": "C",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006010",
      "geneNCBI_id": 3561,
      "geneSymbol": "IL2RG",
      "hgvs": [
        "NM_000206.2:c.281C>A",
        "LRG_150t1:c.281C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000197.1:p.Ser94Ter",
        "hgvsWellDefined": "NP_000197.1:p.Ser94_Thr369delinsAspAsnAspLysValGlnLysCysSerHisTyrLeuPheSerGluGluIleThrSerGlyCysGlnLeuGlnLysLysGluIleHisLeuTyrGlnThrPheValValGlnLeuGlnAspProArgGluProArgArgGlnAlaThrGlnMetLeuLysLeuGlnAsnLeuValIleProTrpAlaProGluAsnLeuThrLeuHisLysLeuSerGluSerGlnLeuGluLeuAsnTrpAsnAsnArgPheLeuAsnHisCysLeuGluHisLeuValGlnTyrArgThrAspTrpAspHisSerTrpThrGluGlnSerValAspTyrArgHisLysPheSerLeuProSerValAspGlyGlnLysArgTyrThrPheArgValArgSerArgPheAsnProLeuCysGlySerAlaGlnHisTrpSerGluTrpSerHisProIleHisTrpGlySerAsnThrSerLysGluAsnProPheLeuPheAlaLeuGluAlaValValIleSerValGlySerMetGlyLeuIleIleSerLeuLeuCysValTyrPheTrpLeuGluArgThrMetProArgIleProThrLeuLysAsnLeuGluAspLeuValThrGluTyrHisGlyAsnPheSerAlaTrpSerGlyValSerLysGlyLeuAlaGluSerLeuGlnProAspTyrSerGluArgLeuCysLeuValSerGluIleProProLysGlyGlyAlaLeuGlyGluGlyProGlyAlaSerProCysAsnGlnHisSerProTyrTrpAlaProProCysTyrThrLeuLysProGluThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006269"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658706324",
      "coordinates": [
        {
          "allele": "A",
          "end": 319,
          "referenceAllele": "C",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006010",
      "geneNCBI_id": 3561,
      "geneSymbol": "IL2RG",
      "hgvs": [
        "NM_000206.3:c.281C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000197.1:p.Ser94Ter",
        "hgvsWellDefined": "NP_000197.1:p.Ser94_Thr369delinsAspAsnAspLysValGlnLysCysSerHisTyrLeuPheSerGluGluIleThrSerGlyCysGlnLeuGlnLysLysGluIleHisLeuTyrGlnThrPheValValGlnLeuGlnAspProArgGluProArgArgGlnAlaThrGlnMetLeuLysLeuGlnAsnLeuValIleProTrpAlaProGluAsnLeuThrLeuHisLysLeuSerGluSerGlnLeuGluLeuAsnTrpAsnAsnArgPheLeuAsnHisCysLeuGluHisLeuValGlnTyrArgThrAspTrpAspHisSerTrpThrGluGlnSerValAspTyrArgHisLysPheSerLeuProSerValAspGlyGlnLysArgTyrThrPheArgValArgSerArgPheAsnProLeuCysGlySerAlaGlnHisTrpSerGluTrpSerHisProIleHisTrpGlySerAsnThrSerLysGluAsnProPheLeuPheAlaLeuGluAlaValValIleSerValGlySerMetGlyLeuIleIleSerLeuLeuCysValTyrPheTrpLeuGluArgThrMetProArgIleProThrLeuLysAsnLeuGluAspLeuValThrGluTyrHisGlyAsnPheSerAlaTrpSerGlyValSerLysGlyLeuAlaGluSerLeuGlnProAspTyrSerGluArgLeuCysLeuValSerGluIleProProLysGlyGlyAlaLeuGlyGluGlyProGlyAlaSerProCysAsnGlnHisSerProTyrTrpAlaProProCysTyrThrLeuLysProGluThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674743",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374202.7:c.281C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000206.3:c.281C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363318.3:p.Ser94Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000197.1:p.Ser94Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}