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      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2775,
          "referenceAllele": "G",
          "start": 2774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029941",
      "geneNCBI_id": 57798,
      "geneSymbol": "GATAD1",
      "hgvs": [
        "XR_927494.3:n.2775G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2772,
          "referenceAllele": "G",
          "start": 2771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029941",
      "geneNCBI_id": 57798,
      "geneSymbol": "GATAD1",
      "hgvs": [
        "XR_927500.3:n.2772G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608559"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2706,
          "referenceAllele": "G",
          "start": 2705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029941",
      "geneNCBI_id": 57798,
      "geneSymbol": "GATAD1",
      "hgvs": [
        "XR_927503.3:n.2706G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608560"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658827092",
      "coordinates": [
        {
          "allele": "T",
          "end": 3290,
          "referenceAllele": "C",
          "start": 3289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_000466.3:c.3205C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000457.1:p.Gln1069Ter",
        "hgvsWellDefined": "NP_000457.1:p.Gln1069_Ala1283delinsAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662453",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000248633.9:c.3205C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000466.3:c.3205C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248633.4:p.Gln1069Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000457.1:p.Gln1069Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826665149",
      "coordinates": [
        {
          "allele": "T",
          "end": 3119,
          "referenceAllele": "C",
          "start": 3118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282677.2:c.3034C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269606.1:p.Gln1012Ter",
        "hgvsWellDefined": "NP_001269606.1:p.Gln1012_Ala1226delinsAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681861"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916013793",
      "coordinates": [
        {
          "allele": "T",
          "end": 3325,
          "referenceAllele": "C",
          "start": 3324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282678.2:c.2581C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269607.1:p.Gln861Ter",
        "hgvsWellDefined": "NP_001269607.1:p.Gln861_Ala1075delinsAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681862"
    }
  ],
  "type": "nucleotide"
}