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      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS605897"
    },
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      "coordinates": [
        {
          "allele": "A",
          "end": 1121,
          "referenceAllele": "C",
          "start": 1120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029941",
      "geneNCBI_id": 57798,
      "geneSymbol": "GATAD1",
      "hgvs": [
        "XR_927494.3:n.1121C>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS608558"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN029941",
      "geneNCBI_id": 57798,
      "geneSymbol": "GATAD1",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS608559"
    },
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      "coordinates": [
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      ],
      "gene": "http://reg.genome.network/gene/GN029941",
      "geneNCBI_id": 57798,
      "geneSymbol": "GATAD1",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS608560"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825183948",
      "coordinates": [
        {
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          "referenceAllele": "G",
          "start": 3493
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      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_000466.3:c.3409G>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000457.1:p.Glu1137_Ala1283delinsLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662453",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          "RefSeq": {
            "hgvs": "NM_000466.3:c.3409G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248633.4:p.Glu1137Ter"
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          "RefSeq": {
            "hgvs": "NP_000457.1:p.Glu1137Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826665203",
      "coordinates": [
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      ],
      "gene": "http://reg.genome.network/gene/GN008850",
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      "geneSymbol": "PEX1",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001269606.1:p.Glu1080_Ala1226delinsLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681861"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580189308",
      "coordinates": [
        {
          "allele": "T",
          "end": 3529,
          "referenceAllele": "G",
          "start": 3528
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      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282678.2:c.2785G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269607.1:p.Glu929Ter",
        "hgvsWellDefined": "NP_001269607.1:p.Glu929_Ala1075delinsLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681862"
    }
  ],
  "type": "nucleotide"
}