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        "hgvsWellDefined": "XP_016859713.1:p.Arg8_Lys193delinsGlnCysSerLeuSerValHisAlaGlyIleArgGlyGluAlaMetArgPheHisPheMetAspGluGlnAsnProLysGlyArgAspLysAlaIleValPheProAlaHisThrThrIleAlaPheSerValPheGluLeuPheIleTyrLeuAspGlyAlaPheAspLeuCysValThrSerValSerLysGlyGlyPheGluArgGluGluThrAlaThrPheAlaLeuLeuTyrArgLeuArgAsnIleLeuPheGluArgAsnArgArgValMetAspValIleSerArgSerGlnLeuTyrLeuAspAspLeuPheSerAspTyrTyrAspLysProLeuSerMetThrAspIleSerLeuLysGluGlyThrHisIleArgValAsnLeuLeuAsnHisAsnIleProLysGlyProCysIleLeuCysGlyMetGlyAsnPheLysArgGluThrValTyrGlyCysPheGlnCysSerValAspGlyGlnLysTyrValArgLeuHisAlaValProCysPheAspIleTrpHisLysArgMetLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559778"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1003,
          "referenceAllele": "C",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029502",
      "geneNCBI_id": 494513,
      "geneSymbol": "PJVK",
      "hgvs": [
        "XM_024452927.1:c.22C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308695.1:p.Arg8Ter",
        "hgvsWellDefined": "XP_024308695.1:p.Arg8_Lys193delinsGlnCysSerLeuSerValHisAlaGlyIleArgGlyGluAlaMetArgPheHisPheMetAspGluGlnAsnProLysGlyArgAspLysAlaIleValPheProAlaHisThrThrIleAlaPheSerValPheGluLeuPheIleTyrLeuAspGlyAlaPheAspLeuCysValThrSerValSerLysGlyGlyPheGluArgGluGluThrAlaThrPheAlaLeuLeuTyrArgLeuArgAsnIleLeuPheGluArgAsnArgArgValMetAspValIleSerArgSerGlnLeuTyrLeuAspAspLeuPheSerAspTyrTyrAspLysProLeuSerMetThrAspIleSerLeuLysGluGlyThrHisIleArgValAsnLeuLeuAsnHisAsnIleProLysGlyProCysIleLeuCysGlyMetGlyAsnPheLysArgGluThrValTyrGlyCysPheGlnCysSerValAspGlyGlnLysTyrValArgLeuHisAlaValProCysPheAspIleTrpHisLysArgMetLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 670,
          "referenceAllele": "C",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029502",
      "geneNCBI_id": 494513,
      "geneSymbol": "PJVK",
      "hgvs": [
        "XM_024452928.1:c.22C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308696.1:p.Arg8Ter",
        "hgvsWellDefined": "XP_024308696.1:p.Arg8_Lys193delinsGlnCysSerLeuSerValHisAlaGlyIleArgGlyGluAlaMetArgPheHisPheMetAspGluGlnAsnProLysGlyArgAspLysAlaIleValPheProAlaHisThrThrIleAlaPheSerValPheGluLeuPheIleTyrLeuAspGlyAlaPheAspLeuCysValThrSerValSerLysGlyGlyPheGluArgGluGluThrAlaThrPheAlaLeuLeuTyrArgLeuArgAsnIleLeuPheGluArgAsnArgArgValMetAspValIleSerArgSerGlnLeuTyrLeuAspAspLeuPheSerAspTyrTyrAspLysProLeuSerMetThrAspIleSerLeuLysGluGlyThrHisIleArgValAsnLeuLeuAsnHisAsnIleProLysGlyProCysIleLeuCysGlyMetGlyAsnPheLysArgGluThrValTyrGlyCysPheGlnCysSerValAspGlyGlnLysTyrValArgLeuHisAlaValProCysPheAspIleTrpHisLysArgMetLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586315"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2311,
          "referenceAllele": "C",
          "start": 2310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029502",
      "geneNCBI_id": 494513,
      "geneSymbol": "PJVK",
      "hgvs": [
        "XR_001738753.2:n.2311C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589212"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2311,
          "referenceAllele": "C",
          "start": 2310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029502",
      "geneNCBI_id": 494513,
      "geneSymbol": "PJVK",
      "hgvs": [
        "XR_002959300.1:n.2311C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 794,
          "referenceAllele": "C",
          "start": 793
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      ],
      "gene": "http://reg.genome.network/gene/GN029502",
      "geneNCBI_id": 494513,
      "geneSymbol": "PJVK",
      "hgvs": [
        "XR_922929.3:n.794C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607191"
    },
    {
      "@id": "http://reg.genome.network/allele/PA251746",
      "coordinates": [
        {
          "allele": "T",
          "end": 913,
          "referenceAllele": "C",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029502",
      "geneNCBI_id": 494513,
      "geneSymbol": "PJVK",
      "hgvs": [
        "NM_001042702.5:c.499C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036167.1:p.Arg167Ter",
        "hgvsWellDefined": "NP_001036167.1:p.Arg167_Lys352delinsGlnCysSerLeuSerValHisAlaGlyIleArgGlyGluAlaMetArgPheHisPheMetAspGluGlnAsnProLysGlyArgAspLysAlaIleValPheProAlaHisThrThrIleAlaPheSerValPheGluLeuPheIleTyrLeuAspGlyAlaPheAspLeuCysValThrSerValSerLysGlyGlyPheGluArgGluGluThrAlaThrPheAlaLeuLeuTyrArgLeuArgAsnIleLeuPheGluArgAsnArgArgValMetAspValIleSerArgSerGlnLeuTyrLeuAspAspLeuPheSerAspTyrTyrAspLysProLeuSerMetThrAspIleSerLeuLysGluGlyThrHisIleArgValAsnLeuLeuAsnHisAsnIleProLysGlyProCysIleLeuCysGlyMetGlyAsnPheLysArgGluThrValTyrGlyCysPheGlnCysSerValAspGlyGlnLysTyrValArgLeuHisAlaValProCysPheAspIleTrpHisLysArgMetLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644580.2:c.499C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001042702.5:c.499C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495855.2:p.Arg167Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001036167.1:p.Arg167Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828371757",
      "coordinates": [
        {
          "allele": "T",
          "end": 670,
          "referenceAllele": "C",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029502",
      "geneNCBI_id": 494513,
      "geneSymbol": "PJVK",
      "hgvs": [
        "NM_001369912.1:c.499C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356841.1:p.Arg167Ter",
        "hgvsWellDefined": "NP_001356841.1:p.Arg167_Lys352delinsGlnCysSerLeuSerValHisAlaGlyIleArgGlyGluAlaMetArgPheHisPheMetAspGluGlnAsnProLysGlyArgAspLysAlaIleValPheProAlaHisThrThrIleAlaPheSerValPheGluLeuPheIleTyrLeuAspGlyAlaPheAspLeuCysValThrSerValSerLysGlyGlyPheGluArgGluGluThrAlaThrPheAlaLeuLeuTyrArgLeuArgAsnIleLeuPheGluArgAsnArgArgValMetAspValIleSerArgSerGlnLeuTyrLeuAspAspLeuPheSerAspTyrTyrAspLysProLeuSerMetThrAspIleSerLeuLysGluGlyThrHisIleArgValAsnLeuLeuAsnHisAsnIleProLysGlyProCysIleLeuCysGlyMetGlyAsnPheLysArgGluThrValTyrGlyCysPheGlnCysSerValAspGlyGlnLysTyrValArgLeuHisAlaValProCysPheAspIleTrpHisLysArgMetLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827737804",
      "coordinates": [
        {
          "allele": "T",
          "end": 746,
          "referenceAllele": "C",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029502",
      "geneNCBI_id": 494513,
      "geneSymbol": "PJVK",
      "hgvs": [
        "NM_001353775.2:c.508C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340704.1:p.Arg170Ter",
        "hgvsWellDefined": "NP_001340704.1:p.Arg170_Lys355delinsGlnCysSerLeuSerValHisAlaGlyIleArgGlyGluAlaMetArgPheHisPheMetAspGluGlnAsnProLysGlyArgAspLysAlaIleValPheProAlaHisThrThrIleAlaPheSerValPheGluLeuPheIleTyrLeuAspGlyAlaPheAspLeuCysValThrSerValSerLysGlyGlyPheGluArgGluGluThrAlaThrPheAlaLeuLeuTyrArgLeuArgAsnIleLeuPheGluArgAsnArgArgValMetAspValIleSerArgSerGlnLeuTyrLeuAspAspLeuPheSerAspTyrTyrAspLysProLeuSerMetThrAspIleSerLeuLysGluGlyThrHisIleArgValAsnLeuLeuAsnHisAsnIleProLysGlyProCysIleLeuCysGlyMetGlyAsnPheLysArgGluThrValTyrGlyCysPheGlnCysSerValAspGlyGlnLysTyrValArgLeuHisAlaValProCysPheAspIleTrpHisLysArgMetLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720294"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827737901",
      "coordinates": [
        {
          "allele": "T",
          "end": 704,
          "referenceAllele": "C",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029502",
      "geneNCBI_id": 494513,
      "geneSymbol": "PJVK",
      "hgvs": [
        "NM_001353776.2:c.604C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340705.1:p.Arg202Ter",
        "hgvsWellDefined": "NP_001340705.1:p.Arg202_Lys354delinsGlnCysSerLeuSerValHisAlaGlyIleArgGlyGluAlaMetArgPheHisPheMetAspGluGlnAsnProLysGlyArgAspLysAlaIleValPheProAlaHisThrThrIleAlaPheSerValPheGluLeuPheIleTyrLeuAspGlyAlaPheAspArgArgValMetAspValIleSerArgSerGlnLeuTyrLeuAspAspLeuPheSerAspTyrTyrAspLysProLeuSerMetThrAspIleSerLeuLysGluGlyThrHisIleArgValAsnLeuLeuAsnHisAsnIleProLysGlyProCysIleLeuCysGlyMetGlyAsnPheLysArgGluThrValTyrGlyCysPheGlnCysSerValAspGlyGlnLysTyrValArgLeuHisAlaValProCysPheAspIleTrpHisLysArgMetLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720295"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916036279",
      "coordinates": [
        {
          "allele": "T",
          "end": 872,
          "referenceAllele": "C",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029502",
      "geneNCBI_id": 494513,
      "geneSymbol": "PJVK",
      "hgvs": [
        "NM_001353778.2:c.22C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340707.1:p.Arg8Ter",
        "hgvsWellDefined": "NP_001340707.1:p.Arg8_Lys193delinsGlnCysSerLeuSerValHisAlaGlyIleArgGlyGluAlaMetArgPheHisPheMetAspGluGlnAsnProLysGlyArgAspLysAlaIleValPheProAlaHisThrThrIleAlaPheSerValPheGluLeuPheIleTyrLeuAspGlyAlaPheAspLeuCysValThrSerValSerLysGlyGlyPheGluArgGluGluThrAlaThrPheAlaLeuLeuTyrArgLeuArgAsnIleLeuPheGluArgAsnArgArgValMetAspValIleSerArgSerGlnLeuTyrLeuAspAspLeuPheSerAspTyrTyrAspLysProLeuSerMetThrAspIleSerLeuLysGluGlyThrHisIleArgValAsnLeuLeuAsnHisAsnIleProLysGlyProCysIleLeuCysGlyMetGlyAsnPheLysArgGluThrValTyrGlyCysPheGlnCysSerValAspGlyGlnLysTyrValArgLeuHisAlaValProCysPheAspIleTrpHisLysArgMetLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720296"
    }
  ],
  "type": "nucleotide"
}