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      "proteinEffect": {
        "hgvs": "NP_003784.2:p.Gln222Ter",
        "hgvsWellDefined": "NP_003784.2:p.Gln222_Asp484delinsAlaLeuAspArgGlyThrAlaGlnTyrGlyValThrLysPheSerAspLeuThrGluGluGluPheArgThrIleTyrLeuAsnThrLeuLeuArgLysGluProGlyAsnLysMetLysGlnAlaLysSerValGlyAspLeuAlaProProGluTrpAspTrpArgSerLysGlyAlaValThrLysValLysAspGlnGlyMetCysGlySerCysTrpAlaPheSerValThrGlyAsnValGluGlyGlnTrpPheLeuAsnGlnGlyThrLeuLeuSerLeuSerGluGlnGluLeuLeuAspCysAspLysMetAspLysAlaCysMetGlyGlyLeuProSerAsnAlaTyrSerAlaIleLysAsnLeuGlyGlyLeuGluThrGluAspAspTyrSerTyrGlnGlyHisMetGlnSerCysAsnPheSerAlaGluLysAlaLysValTyrIleAsnAspSerValGluLeuSerGlnAsnGluGlnLysLeuAlaAlaTrpLeuAlaLysArgGlyProIleSerValAlaIleAsnAlaPheGlyMetGlnPheTyrArgHisGlyIleSerArgProLeuArgProLeuCysSerProTrpLeuIleAspHisAlaValLeuLeuValGlyTyrGlyAsnArgSerAspValProPheTrpAlaIleLysAsnSerTrpGlyThrAspTrpGlyGluLysGlyTyrTyrTyrLeuHisArgGlySerGlyAlaCysGlyValAsnThrMetAlaSerSerAlaValValAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 499,
          "referenceAllele": "C",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002531",
      "geneNCBI_id": 8722,
      "geneSymbol": "CTSF",
      "hgvs": [
        "XM_011545328.1:c.484C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543630.1:p.Gln162Ter",
        "hgvsWellDefined": "XP_011543630.1:p.Gln162_Asp424delinsAlaLeuAspArgGlyThrAlaGlnTyrGlyValThrLysPheSerAspLeuThrGluGluGluPheArgThrIleTyrLeuAsnThrLeuLeuArgLysGluProGlyAsnLysMetLysGlnAlaLysSerValGlyAspLeuAlaProProGluTrpAspTrpArgSerLysGlyAlaValThrLysValLysAspGlnGlyMetCysGlySerCysTrpAlaPheSerValThrGlyAsnValGluGlyGlnTrpPheLeuAsnGlnGlyThrLeuLeuSerLeuSerGluGlnGluLeuLeuAspCysAspLysMetAspLysAlaCysMetGlyGlyLeuProSerAsnAlaTyrSerAlaIleLysAsnLeuGlyGlyLeuGluThrGluAspAspTyrSerTyrGlnGlyHisMetGlnSerCysAsnPheSerAlaGluLysAlaLysValTyrIleAsnAspSerValGluLeuSerGlnAsnGluGlnLysLeuAlaAlaTrpLeuAlaLysArgGlyProIleSerValAlaIleAsnAlaPheGlyMetGlnPheTyrArgHisGlyIleSerArgProLeuArgProLeuCysSerProTrpLeuIleAspHisAlaValLeuLeuValGlyTyrGlyAsnArgSerAspValProPheTrpAlaIleLysAsnSerTrpGlyThrAspTrpGlyGluLysGlyTyrTyrTyrLeuHisArgGlySerGlyAlaCysGlyValAsnThrMetAlaSerSerAlaValValAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 504,
          "referenceAllele": "C",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002531",
      "geneNCBI_id": 8722,
      "geneSymbol": "CTSF",
      "hgvs": [
        "XM_011545328.2:c.484C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543630.1:p.Gln162Ter",
        "hgvsWellDefined": "XP_011543630.1:p.Gln162_Asp424delinsAlaLeuAspArgGlyThrAlaGlnTyrGlyValThrLysPheSerAspLeuThrGluGluGluPheArgThrIleTyrLeuAsnThrLeuLeuArgLysGluProGlyAsnLysMetLysGlnAlaLysSerValGlyAspLeuAlaProProGluTrpAspTrpArgSerLysGlyAlaValThrLysValLysAspGlnGlyMetCysGlySerCysTrpAlaPheSerValThrGlyAsnValGluGlyGlnTrpPheLeuAsnGlnGlyThrLeuLeuSerLeuSerGluGlnGluLeuLeuAspCysAspLysMetAspLysAlaCysMetGlyGlyLeuProSerAsnAlaTyrSerAlaIleLysAsnLeuGlyGlyLeuGluThrGluAspAspTyrSerTyrGlnGlyHisMetGlnSerCysAsnPheSerAlaGluLysAlaLysValTyrIleAsnAspSerValGluLeuSerGlnAsnGluGlnLysLeuAlaAlaTrpLeuAlaLysArgGlyProIleSerValAlaIleAsnAlaPheGlyMetGlnPheTyrArgHisGlyIleSerArgProLeuArgProLeuCysSerProTrpLeuIleAspHisAlaValLeuLeuValGlyTyrGlyAsnArgSerAspValProPheTrpAlaIleLysAsnSerTrpGlyThrAspTrpGlyGluLysGlyTyrTyrTyrLeuHisArgGlySerGlyAlaCysGlyValAsnThrMetAlaSerSerAlaValValAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741906163",
      "coordinates": [
        {
          "allele": "T",
          "end": 784,
          "referenceAllele": "C",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002531",
      "geneNCBI_id": 8722,
      "geneSymbol": "CTSF",
      "hgvs": [
        "NM_003793.4:c.664C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003784.2:p.Gln222Ter",
        "hgvsWellDefined": "NP_003784.2:p.Gln222_Asp484delinsAlaLeuAspArgGlyThrAlaGlnTyrGlyValThrLysPheSerAspLeuThrGluGluGluPheArgThrIleTyrLeuAsnThrLeuLeuArgLysGluProGlyAsnLysMetLysGlnAlaLysSerValGlyAspLeuAlaProProGluTrpAspTrpArgSerLysGlyAlaValThrLysValLysAspGlnGlyMetCysGlySerCysTrpAlaPheSerValThrGlyAsnValGluGlyGlnTrpPheLeuAsnGlnGlyThrLeuLeuSerLeuSerGluGlnGluLeuLeuAspCysAspLysMetAspLysAlaCysMetGlyGlyLeuProSerAsnAlaTyrSerAlaIleLysAsnLeuGlyGlyLeuGluThrGluAspAspTyrSerTyrGlnGlyHisMetGlnSerCysAsnPheSerAlaGluLysAlaLysValTyrIleAsnAspSerValGluLeuSerGlnAsnGluGlnLysLeuAlaAlaTrpLeuAlaLysArgGlyProIleSerValAlaIleAsnAlaPheGlyMetGlnPheTyrArgHisGlyIleSerArgProLeuArgProLeuCysSerProTrpLeuIleAspHisAlaValLeuLeuValGlyTyrGlyAsnArgSerAspValProPheTrpAlaIleLysAsnSerTrpGlyThrAspTrpGlyGluLysGlyTyrTyrTyrLeuHisArgGlySerGlyAlaCysGlyValAsnThrMetAlaSerSerAlaValValAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666185",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310325.10:c.664C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003793.4:c.664C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310832.5:p.Gln222Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003784.2:p.Gln222Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}