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      "hgvs": [
        "NM_001190383.2:c.1622C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177312.1:p.Ser541Ter",
        "hgvsWellDefined": "NP_001177312.1:p.Ser541_Tyr648delinsValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511761"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826158285",
      "coordinates": [
        {
          "allele": "G",
          "end": 1655,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN023657",
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      "geneSymbol": "GNE",
      "hgvs": [
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        "hgvs": "NP_001177313.1:p.Ser505Ter",
        "hgvsWellDefined": "NP_001177313.1:p.Ser505_Tyr612delinsValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829589128",
      "coordinates": [
        {
          "allele": "G",
          "end": 2014,
          "referenceAllele": "C",
          "start": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_005476.6:c.1844C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005467.1:p.Ser615Ter",
        "hgvsWellDefined": "NP_005467.1:p.Ser615_Tyr722delinsValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525317"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1896,
          "referenceAllele": "C",
          "start": 1895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "XM_005251334.4:c.1784C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251391.1:p.Ser595Ter",
        "hgvsWellDefined": "XP_005251391.1:p.Ser595_Tyr702delinsValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533584"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1910,
          "referenceAllele": "C",
          "start": 1909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "XM_017014167.1:c.1844C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869656.1:p.Ser615Ter",
        "hgvsWellDefined": "XP_016869656.1:p.Ser615_Tyr722delinsValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567199"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1889,
          "referenceAllele": "C",
          "start": 1888
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      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "XM_017014168.1:c.1691C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869657.1:p.Ser564Ter",
        "hgvsWellDefined": "XP_016869657.1:p.Ser564_Tyr671delinsValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567200"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645424111",
      "coordinates": [
        {
          "allele": "G",
          "end": 1971,
          "referenceAllele": "C",
          "start": 1970
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      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001128227.3:c.1937C>G"
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      "proteinEffect": {
        "hgvs": "NP_001121699.1:p.Ser646Ter",
        "hgvsWellDefined": "NP_001121699.1:p.Ser646_Tyr753delinsValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676980",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396594.8:c.1937C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001128227.3:c.1937C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379839.3:p.Ser646Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001121699.1:p.Ser646Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826157788",
      "coordinates": [
        {
          "allele": "G",
          "end": 1792,
          "referenceAllele": "C",
          "start": 1791
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      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190383.3:c.1622C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177312.1:p.Ser541Ter",
        "hgvsWellDefined": "NP_001177312.1:p.Ser541_Tyr648delinsValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679106"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826158285",
      "coordinates": [
        {
          "allele": "G",
          "end": 1655,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190384.3:c.1514C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177313.1:p.Ser505Ter",
        "hgvsWellDefined": "NP_001177313.1:p.Ser505_Tyr612delinsValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679107"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826158831",
      "coordinates": [
        {
          "allele": "G",
          "end": 1765,
          "referenceAllele": "C",
          "start": 1764
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      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190388.2:c.1667C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177317.2:p.Ser556Ter",
        "hgvsWellDefined": "NP_001177317.2:p.Ser556_Tyr663delinsValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679108"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828550717",
      "coordinates": [
        {
          "allele": "G",
          "end": 1861,
          "referenceAllele": "C",
          "start": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001374797.1:c.1691C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361726.1:p.Ser564Ter",
        "hgvsWellDefined": "NP_001361726.1:p.Ser564_Tyr671delinsValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693367"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828551555",
      "coordinates": [
        {
          "allele": "G",
          "end": 1808,
          "referenceAllele": "C",
          "start": 1807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001374798.1:c.1667C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361727.1:p.Ser556Ter",
        "hgvsWellDefined": "NP_001361727.1:p.Ser556_Tyr663delinsValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693368"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829589128",
      "coordinates": [
        {
          "allele": "G",
          "end": 2014,
          "referenceAllele": "C",
          "start": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_005476.7:c.1844C>G"
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      "proteinEffect": {
        "hgvs": "NP_005467.1:p.Ser615Ter",
        "hgvsWellDefined": "NP_005467.1:p.Ser615_Tyr722delinsValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696430",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642385.2:c.1844C>G"
          },
          "RefSeq": {
            "hgvs": "NM_005476.7:c.1844C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494141.2:p.Ser615Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005467.1:p.Ser615Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}