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      "proteinEffect": {
        "hgvs": "NP_001805.4:p.Gln90Ter",
        "hgvsWellDefined": "NP_001805.4:p.Gln90_Leu463delinsGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysTyrLysGluGluGlySerLysValThrThrTyrCysAsnGluThrMetThrGlyTrpValHisAspValLeuGlyArgAsnTrpAlaCysPheThrGlyLysLysValGlyThrAlaSerGluAsnValTyrValAsnIleAlaHisLeuLysAsnSerGlnGluLysTyrSerAsnArgLeuTyrLysTyrAspHisAsnPheValLysAlaIleAsnAlaIleGlnLysSerTrpThrAlaThrThrTyrMetGluTyrGluThrLeuThrLeuGlyAspMetIleArgArgSerGlyGlyHisSerArgLysIleProArgProLysProAlaProLeuThrAlaGluIleGlnGlnLysIleLeuHisLeuProThrSerTrpAspTrpArgAsnValHisGlyIleAsnPheValSerProValArgAsnGlnAlaSerCysGlySerCysTyrSerPheAlaSerMetGlyMetLeuGluAlaArgIleArgIleLeuThrAsnAsnSerGlnThrProIleLeuSerProGlnGluValValSerCysSerGlnTyrAlaGlnGlyCysGluGlyGlyPheProTyrLeuIleAlaGlyLysTyrAlaGlnAspPheGlyLeuValGluGluAlaCysPheProTyrThrGlyThrAspSerProCysLysMetLysGluAspCysPheArgTyrTyrSerSerGluTyrHisTyrValGlyGlyPheTyrGlyGlyCysAsnGluAlaLeuMetLysLeuGluLeuValHisHisGlyProMetAlaValAlaPheGluValTyrAspAspPheLeuHisTyrLysLysGlyIleTyrHisHisThrGlyLeuArgAspProPheAsnProPheGluLeuThrAsnHisAlaValLeuLeuValGlyTyrGlyThrAspSerAlaSerGlyMetAspTyrTrpIleValLysAsnSerTrpGlyThrGlyTrpGlyGluAsnGlyTyrPheArgIleArgArgGlyThrAspGluCysAlaIleGluSerIleAlaValAlaAlaThrProIleProLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665189",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000227266.10:c.268C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001814.6:c.268C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000227266.4:p.Gln90Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001805.4:p.Gln90Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825570196",
      "coordinates": [
        {
          "allele": "T",
          "end": 332,
          "referenceAllele": "C",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "NM_001114173.3:c.268C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107645.1:p.Gln90Ter",
        "hgvsWellDefined": "NP_001107645.1:p.Gln90_Gly141delinsGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysAspValThrAspPheIleSerHisLeuPheMetGlnLeuGlyThrValGlyIleTyrAspLeuProHisLeuArgAsnLysLeuAlaMetAsnArgArgTrpGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573300032",
      "coordinates": [
        {
          "allele": "T",
          "end": 332,
          "referenceAllele": "C",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002528",
      "geneNCBI_id": 1075,
      "geneSymbol": "CTSC",
      "hgvs": [
        "NM_148170.5:c.268C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_680475.1:p.Gln90Ter",
        "hgvsWellDefined": "NP_680475.1:p.Gln90_Lys137delinsGlyPheGluIleValLeuAsnAspTyrLysTrpPheAlaPhePheLysAspValThrAspPheIleSerHisLeuPheMetGlnLeuGlyThrValGlyIleTyrAspLeuProHisLeuArgAsnLysLeuValIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700098"
    }
  ],
  "type": "nucleotide"
}