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      "proteinEffect": {
        "hgvs": "XP_011520183.1:p.Gln772Ter",
        "hgvsWellDefined": "XP_011520183.1:p.Gln772_Ser979delinsArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546362"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825041852",
      "coordinates": [
        {
          "allele": "T",
          "end": 3727,
          "referenceAllele": "C",
          "start": 3726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.4:c.3628C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Gln1210Ter",
        "hgvsWellDefined": "NP_000048.1:p.Gln1210_Ser1417delinsArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.3628C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.3628C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Gln1210Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Gln1210Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826738652",
      "coordinates": [
        {
          "allele": "T",
          "end": 3837,
          "referenceAllele": "C",
          "start": 3836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.2:c.3628C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Gln1210Ter",
        "hgvsWellDefined": "NP_001274175.1:p.Gln1210_Ser1417delinsArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682382"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3457,
          "endIntronDirection": "-",
          "endIntronOffset": 4900,
          "referenceAllele": "C",
          "start": 3457,
          "startIntronDirection": "-",
          "startIntronOffset": 4901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.2:c.3359-4901C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:n.3359-4901C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682383"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580197258",
      "coordinates": [
        {
          "allele": "T",
          "end": 3893,
          "referenceAllele": "C",
          "start": 3892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.2:c.2503C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:p.Gln835Ter",
        "hgvsWellDefined": "NP_001274177.1:p.Gln835_Ser1042delinsArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682384"
    }
  ],
  "type": "nucleotide"
}