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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523114"
    },
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      "@id": "http://reg.genome.network/allele/PA277624",
      "coordinates": [
        {
          "allele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN015968",
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      "geneSymbol": "GDAP1",
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_061845.2:p.Arg125_Phe358delinsGluLeuLeuAspSerLeuProMetAspAlaTyrThrHisGlyCysIleLeuHisProGluLeuThrValAspSerMetIleProAlaTyrAlaThrThrArgIleArgSerGlnIleGlyAsnThrGluSerGluLeuLysLysLeuAlaGluGluAsnProAspLeuGlnGluAlaTyrIleAlaLysGlnLysArgLeuLysSerLysLeuLeuAspHisAspAsnValLysTyrLeuLysLysIleLeuAspGluLeuGluLysValLeuAspGlnValGluThrGluLeuGlnArgArgAsnGluGluThrProGluGluGlyGlnGlnProTrpLeuCysGlyGluSerPheThrLeuAlaAspValSerLeuAlaValThrLeuHisArgLeuLysPheLeuGlyPheAlaArgArgAsnTrpGlyAsnGlyLysArgProAsnLeuGluThrTyrTyrGluArgValLeuLysArgLysThrPheAsnLysValLeuGlyHisValAsnAsnIleLeuIleSerAlaValLeuProThrAlaPheArgValAlaLysLysArgAlaProLysValLeuGlyThrThrLeuValValGlyLeuLeuAlaGlyValGlyTyrPheAlaPheMetLeuPheArgLysArgLeuGlySerMetIleLeuAlaPheArgProArgProAsnTyrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 391,
          "referenceAllele": "C",
          "start": 390
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      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "XM_017013586.2:c.373C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_016869075.2:p.Arg125_Cys229delinsGluLeuLeuAspSerLeuProMetAspAlaTyrThrHisGlyCysIleLeuHisProGluLeuThrValAspSerMetIleProAlaTyrAlaThrThrArgIleArgSerGlnIleGlyAsnThrGluSerGluLeuLysLysLeuAlaGluGluAsnProAspLeuGlnGluAlaTyrIleAlaLysGlnLysArgLeuLysValPheHisHisTrpLysSerSerLeuAspLeuHisProSerMetCysArgProAspLeuLeuCysProLeuArgSerValLeuTyrGlyGlnProPheSerPheCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566835"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828072110",
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        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 431
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      ],
      "gene": "http://reg.genome.network/gene/GN015968",
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      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001362931.2:c.373C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001349860.1:p.Arg125_Gln263delinsGluLeuLeuAspSerLeuProMetAspAlaTyrThrHisGlyCysIleLeuHisProGluLeuThrValAspSerMetIleProAlaTyrAlaThrThrArgIleArgSerGlnIleGlyAsnThrGluSerGluLeuLysLysLeuAlaGluGluAsnProAspLeuGlnGluAlaTyrIleAlaLysGlnLysArgLeuLysSerLysLeuLeuAspHisAspAsnValLysTyrLeuLysLysIleLeuAspGluLeuGluLysValLeuAspGlnValGluThrGluLeuGlnArgArgAsnGluGluThrProAlaSerHisMetGlnHisThrGlyGlyArgThrAlaHisLeuValProLysThrThrValAspLeuAlaGluLeuAlaAlaLeuThrValTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690576"
    },
    {
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        {
          "allele": "T",
          "end": 432,
          "referenceAllele": "C",
          "start": 431
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      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_061845.2:p.Arg125_Phe358delinsGluLeuLeuAspSerLeuProMetAspAlaTyrThrHisGlyCysIleLeuHisProGluLeuThrValAspSerMetIleProAlaTyrAlaThrThrArgIleArgSerGlnIleGlyAsnThrGluSerGluLeuLysLysLeuAlaGluGluAsnProAspLeuGlnGluAlaTyrIleAlaLysGlnLysArgLeuLysSerLysLeuLeuAspHisAspAsnValLysTyrLeuLysLysIleLeuAspGluLeuGluLysValLeuAspGlnValGluThrGluLeuGlnArgArgAsnGluGluThrProGluGluGlyGlnGlnProTrpLeuCysGlyGluSerPheThrLeuAlaAspValSerLeuAlaValThrLeuHisArgLeuLysPheLeuGlyPheAlaArgArgAsnTrpGlyAsnGlyLysArgProAsnLeuGluThrTyrTyrGluArgValLeuLysArgLysThrPheAsnLysValLeuGlyHisValAsnAsnIleLeuIleSerAlaValLeuProThrAlaPheArgValAlaLysLysArgAlaProLysValLeuGlyThrThrLeuValValGlyLeuLeuAlaGlyValGlyTyrPheAlaPheMetLeuPheArgLysArgLeuGlySerMetIleLeuAlaPheArgProArgProAsnTyrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698118",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000220822.12:c.373C>T"
          },
          "RefSeq": {
            "hgvs": "NM_018972.4:c.373C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000220822.7:p.Arg125Ter"
          },
          "RefSeq": {
            "hgvs": "NP_061845.2:p.Arg125Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915959199",
      "coordinates": [
        {
          "allele": "T",
          "end": 302,
          "referenceAllele": "C",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001040875.4:c.169C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035808.1:p.Arg57Ter",
        "hgvsWellDefined": "NP_001035808.1:p.Arg57_Phe290delinsGluLeuLeuAspSerLeuProMetAspAlaTyrThrHisGlyCysIleLeuHisProGluLeuThrValAspSerMetIleProAlaTyrAlaThrThrArgIleArgSerGlnIleGlyAsnThrGluSerGluLeuLysLysLeuAlaGluGluAsnProAspLeuGlnGluAlaTyrIleAlaLysGlnLysArgLeuLysSerLysLeuLeuAspHisAspAsnValLysTyrLeuLysLysIleLeuAspGluLeuGluLysValLeuAspGlnValGluThrGluLeuGlnArgArgAsnGluGluThrProGluGluGlyGlnGlnProTrpLeuCysGlyGluSerPheThrLeuAlaAspValSerLeuAlaValThrLeuHisArgLeuLysPheLeuGlyPheAlaArgArgAsnTrpGlyAsnGlyLysArgProAsnLeuGluThrTyrTyrGluArgValLeuLysArgLysThrPheAsnLysValLeuGlyHisValAsnAsnIleLeuIleSerAlaValLeuProThrAlaPheArgValAlaLysLysArgAlaProLysValLeuGlyThrThrLeuValValGlyLeuLeuAlaGlyValGlyTyrPheAlaPheMetLeuPheArgLysArgLeuGlySerMetIleLeuAlaPheArgProArgProAsnTyrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711670"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828071533",
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        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
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      "geneSymbol": "GDAP1",
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001349858.1:p.Arg16_Phe249delinsGluLeuLeuAspSerLeuProMetAspAlaTyrThrHisGlyCysIleLeuHisProGluLeuThrValAspSerMetIleProAlaTyrAlaThrThrArgIleArgSerGlnIleGlyAsnThrGluSerGluLeuLysLysLeuAlaGluGluAsnProAspLeuGlnGluAlaTyrIleAlaLysGlnLysArgLeuLysSerLysLeuLeuAspHisAspAsnValLysTyrLeuLysLysIleLeuAspGluLeuGluLysValLeuAspGlnValGluThrGluLeuGlnArgArgAsnGluGluThrProGluGluGlyGlnGlnProTrpLeuCysGlyGluSerPheThrLeuAlaAspValSerLeuAlaValThrLeuHisArgLeuLysPheLeuGlyPheAlaArgArgAsnTrpGlyAsnGlyLysArgProAsnLeuGluThrTyrTyrGluArgValLeuLysArgLysThrPheAsnLysValLeuGlyHisValAsnAsnIleLeuIleSerAlaValLeuProThrAlaPheArgValAlaLysLysArgAlaProLysValLeuGlyThrThrLeuValValGlyLeuLeuAlaGlyValGlyTyrPheAlaPheMetLeuPheArgLysArgLeuGlySerMetIleLeuAlaPheArgProArgProAsnTyrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720677"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 369,
          "endIntronDirection": "-",
          "endIntronOffset": 1684,
          "referenceAllele": "C",
          "start": 369,
          "startIntronDirection": "-",
          "startIntronOffset": 1685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
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      "geneSymbol": "GDAP1",
      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720678"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828072230",
      "coordinates": [
        {
          "allele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN015968",
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      "geneSymbol": "GDAP1",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_001349861.1:p.Arg16Ter",
        "hgvsWellDefined": "NP_001349861.1:p.Arg16_Phe249delinsGluLeuLeuAspSerLeuProMetAspAlaTyrThrHisGlyCysIleLeuHisProGluLeuThrValAspSerMetIleProAlaTyrAlaThrThrArgIleArgSerGlnIleGlyAsnThrGluSerGluLeuLysLysLeuAlaGluGluAsnProAspLeuGlnGluAlaTyrIleAlaLysGlnLysArgLeuLysSerLysLeuLeuAspHisAspAsnValLysTyrLeuLysLysIleLeuAspGluLeuGluLysValLeuAspGlnValGluThrGluLeuGlnArgArgAsnGluGluThrProGluGluGlyGlnGlnProTrpLeuCysGlyGluSerPheThrLeuAlaAspValSerLeuAlaValThrLeuHisArgLeuLysPheLeuGlyPheAlaArgArgAsnTrpGlyAsnGlyLysArgProAsnLeuGluThrTyrTyrGluArgValLeuLysArgLysThrPheAsnLysValLeuGlyHisValAsnAsnIleLeuIleSerAlaValLeuProThrAlaPheArgValAlaLysLysArgAlaProLysValLeuGlyThrThrLeuValValGlyLeuLeuAlaGlyValGlyTyrPheAlaPheMetLeuPheArgLysArgLeuGlySerMetIleLeuAlaPheArgProArgProAsnTyrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720679"
    }
  ],
  "type": "nucleotide"
}