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      "proteinEffect": {
        "hgvs": "XP_011517007.1:p.Gln176Ter",
        "hgvsWellDefined": "XP_011517007.1:p.Gln176_Lys450delinsIleLysValIleAlaProTrpArgMetProGluPheTyrAsnArgPheLysGlyArgAsnAspLeuMetGluTyrAlaLysGlnHisGlyIleProIleProValThrProLysAsnProTrpSerMetAspGluAsnLeuMetHisIleSerTyrGluAlaGlyIleLeuGluAsnProLysAsnGlnAlaProProGlyLeuTyrThrLysThrGlnAspProAlaLysAlaProAsnThrProAspIleLeuGluIleGluPheLysLysGlyValProValLysValThrAsnValLysAspGlyThrThrHisGlnThrSerLeuGluLeuPheMetTyrLeuAsnGluValAlaGlyLysHisGlyValGlyArgIleAspIleValGluAsnArgPheIleGlyMetLysSerArgGlyIleTyrGluThrProAlaGlyThrIleLeuTyrHisAlaHisLeuAspIleGluAlaPheThrMetAspArgGluValArgLysIleLysGlnGlyLeuGlyLeuLysPheAlaGluLeuValTyrThrGlyPheTrpHisSerProGluCysGluPheValArgHisCysIleAlaLysSerGlnGluArgValGluGlyLysValGlnValSerValLeuLysGlyGlnValTyrIleLeuGlyArgGluSerProLeuSerLeuTyrAsnGluGluLeuValSerMetAsnValGlnGlyAspTyrGluProThrAspAlaThrGlyPheIleAsnIleAsnSerLeuArgLeuLysGluTyrHisArgLeuGlnSerLysValThrAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545040"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 610,
          "referenceAllele": "C",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_017014729.1:c.508C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870218.1:p.Gln170Ter",
        "hgvsWellDefined": "XP_016870218.1:p.Gln170_Lys444delinsIleLysValIleAlaProTrpArgMetProGluPheTyrAsnArgPheLysGlyArgAsnAspLeuMetGluTyrAlaLysGlnHisGlyIleProIleProValThrProLysAsnProTrpSerMetAspGluAsnLeuMetHisIleSerTyrGluAlaGlyIleLeuGluAsnProLysAsnGlnAlaProProGlyLeuTyrThrLysThrGlnAspProAlaLysAlaProAsnThrProAspIleLeuGluIleGluPheLysLysGlyValProValLysValThrAsnValLysAspGlyThrThrHisGlnThrSerLeuGluLeuPheMetTyrLeuAsnGluValAlaGlyLysHisGlyValGlyArgIleAspIleValGluAsnArgPheIleGlyMetLysSerArgGlyIleTyrGluThrProAlaGlyThrIleLeuTyrHisAlaHisLeuAspIleGluAlaPheThrMetAspArgGluValArgLysIleLysGlnGlyLeuGlyLeuLysPheAlaGluLeuValTyrThrGlyPheTrpHisSerProGluCysGluPheValArgHisCysIleAlaLysSerGlnGluArgValGluGlyLysValGlnValSerValLeuLysGlyGlnValTyrIleLeuGlyArgGluSerProLeuSerLeuTyrAsnGluGluLeuValSerMetAsnValGlnGlyAspTyrGluProThrAspAlaThrGlyPheIleAsnIleAsnSerLeuArgLeuLysGluTyrHisArgLeuGlnSerLysValThrAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916052887",
      "coordinates": [
        {
          "allele": "T",
          "end": 452,
          "referenceAllele": "C",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "NM_054012.4:c.412C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_446464.1:p.Gln138Ter",
        "hgvsWellDefined": "NP_446464.1:p.Gln138_Lys412delinsIleLysValIleAlaProTrpArgMetProGluPheTyrAsnArgPheLysGlyArgAsnAspLeuMetGluTyrAlaLysGlnHisGlyIleProIleProValThrProLysAsnProTrpSerMetAspGluAsnLeuMetHisIleSerTyrGluAlaGlyIleLeuGluAsnProLysAsnGlnAlaProProGlyLeuTyrThrLysThrGlnAspProAlaLysAlaProAsnThrProAspIleLeuGluIleGluPheLysLysGlyValProValLysValThrAsnValLysAspGlyThrThrHisGlnThrSerLeuGluLeuPheMetTyrLeuAsnGluValAlaGlyLysHisGlyValGlyArgIleAspIleValGluAsnArgPheIleGlyMetLysSerArgGlyIleTyrGluThrProAlaGlyThrIleLeuTyrHisAlaHisLeuAspIleGluAlaPheThrMetAspArgGluValArgLysIleLysGlnGlyLeuGlyLeuLysPheAlaGluLeuValTyrThrGlyPheTrpHisSerProGluCysGluPheValArgHisCysIleAlaLysSerGlnGluArgValGluGlyLysValGlnValSerValLeuLysGlyGlnValTyrIleLeuGlyArgGluSerProLeuSerLeuTyrAsnGluGluLeuValSerMetAsnValGlnGlyAspTyrGluProThrAspAlaThrGlyPheIleAsnIleAsnSerLeuArgLeuLysGluTyrHisArgLeuGlnSerLysValThrAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699455",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352480.10:c.412C>T"
          },
          "RefSeq": {
            "hgvs": "NM_054012.4:c.412C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253004.6:p.Gln138Ter"
          },
          "RefSeq": {
            "hgvs": "NP_446464.1:p.Gln138Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}