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        "hgvsWellDefined": "XP_005246688.1:p.Glu848_Leu954delinsLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057716"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2862,
          "referenceAllele": "G",
          "start": 2861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_005246632.1:c.2542G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246689.1:p.Glu848Ter",
        "hgvsWellDefined": "XP_005246689.1:p.Glu848_Leu954delinsLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057717"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2789,
          "referenceAllele": "G",
          "start": 2788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_006712557.1:c.2476G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712620.1:p.Glu826Ter",
        "hgvsWellDefined": "XP_006712620.1:p.Glu826_Leu932delinsLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069710"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2803,
          "referenceAllele": "G",
          "start": 2802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_005246632.2:c.2542G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246689.1:p.Glu848Ter",
        "hgvsWellDefined": "XP_005246689.1:p.Glu848_Leu954delinsLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532654"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2664,
          "referenceAllele": "G",
          "start": 2663
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      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_017004228.2:c.1630G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859717.1:p.Glu544Ter",
        "hgvsWellDefined": "XP_016859717.1:p.Glu544_Leu650delinsLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559780"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825630346",
      "coordinates": [
        {
          "allele": "T",
          "end": 2671,
          "referenceAllele": "G",
          "start": 2670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NM_001127207.2:c.2542G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120679.1:p.Glu848Ter",
        "hgvsWellDefined": "NP_001120679.1:p.Glu848_Leu954delinsLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676852"
    },
    {
      "@id": "http://reg.genome.network/allele/PA253019",
      "coordinates": [
        {
          "allele": "T",
          "end": 2802,
          "referenceAllele": "G",
          "start": 2801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NM_014140.4:c.2542G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054859.2:p.Glu848Ter",
        "hgvsWellDefined": "NP_054859.2:p.Glu848_Leu954delinsLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697187",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357276.9:c.2542G>T"
          },
          "RefSeq": {
            "hgvs": "NM_014140.4:c.2542G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349823.4:p.Glu848Ter"
          },
          "RefSeq": {
            "hgvs": "NP_054859.2:p.Glu848Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}