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      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "NM_004836.7:c.2890C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004827.4:p.Gln964Ter",
        "hgvsWellDefined": "NP_004827.4:p.Gln964_Asn1116delinsAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696252",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303236.9:c.2890C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004836.7:c.2890C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307235.3:p.Gln964Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004827.4:p.Gln964Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826947513",
      "coordinates": [
        {
          "allele": "T",
          "end": 2766,
          "referenceAllele": "C",
          "start": 2765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003255",
      "geneNCBI_id": 9451,
      "geneSymbol": "EIF2AK3",
      "hgvs": [
        "NM_001313915.2:c.2437C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001300844.1:p.Gln813Ter",
        "hgvsWellDefined": "NP_001300844.1:p.Gln813_Asn965delinsAspGluGluGluGlnThrValLeuThrProMetProAlaTyrAlaArgHisThrGlyGlnValGlyThrLysLeuTyrMetSerProGluGlnIleHisGlyAsnSerTyrSerHisLysValAspIlePheSerLeuGlyLeuIleLeuPheGluLeuLeuTyrProPheSerThrGlnMetGluArgValArgThrLeuThrAspValArgAsnLeuLysPheProProLeuPheThrGlnLysTyrProCysGluTyrValMetValGlnAspMetLeuSerProSerProMetGluArgProGluAlaIleAsnIleIleGluAsnAlaValPheGluAspLeuAspPheProGlyLysThrValLeuArgGlnArgSerArgSerLeuSerSerSerGlyThrLysHisSerArgGlnSerAsnAsnSerHisSerProLeuProSerAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717329"
    }
  ],
  "type": "nucleotide"
}