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        "hgvsWellDefined": "XP_011539878.1:p.Gln118_Arg200delinsAlaAspProAspSerGlyArgProLeuGlnGlySerLeuGlyProGlyGlyArgGlyCysSerGlyAlaArgArgTrpMetArgHisHisThrAlaThrLeuThrGluGlnGlnArgArgAlaLeuLeuArgAlaValPheValLeuArgGlnGlyLeuAlaCysLeuGlnArgLeuHisValAlaTrpPheTyrIleHisGlyValPheTyrHisLeuAlaLysArgLeuThrGlyIleThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554493"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 421,
          "referenceAllele": "C",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008851",
      "geneNCBI_id": 5192,
      "geneSymbol": "PEX10",
      "hgvs": [
        "XR_946666.2:n.421C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614417"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828512983",
      "coordinates": [
        {
          "allele": "T",
          "end": 414,
          "referenceAllele": "C",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008851",
      "geneNCBI_id": 5192,
      "geneSymbol": "PEX10",
      "hgvs": [
        "NM_001374425.1:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361354.1:p.Gln118Ter",
        "hgvsWellDefined": "NP_001361354.1:p.Gln118_Arg345delinsAlaAspProAspSerGlyArgProLeuGlnGlySerLeuGlyProGlyGlyArgGlyCysSerGlyAlaArgArgTrpMetArgHisHisThrAlaThrLeuThrGluGlnGlnArgArgAlaLeuLeuArgAlaValPheValLeuArgGlnGlyLeuAlaCysLeuGlnArgLeuHisValAlaTrpPheTyrIleHisGlyValPheTyrHisLeuAlaLysArgLeuThrGlyIleThrTyrAlaLeuArgProAspProLeuArgValLeuMetSerValAlaProSerAlaLeuGlnLeuArgValArgSerLeuProGlyGluAspLeuArgAlaArgValSerTyrArgLeuLeuGlyValIleSerLeuLeuHisLeuValLeuSerMetGlyLeuGlnLeuTyrGlyPheArgGlnArgGlnArgAlaArgLysGluTrpArgLeuHisArgGlyLeuSerHisArgArgAlaSerLeuGluGluArgAlaValSerArgAsnProLeuCysThrLeuCysLeuGluGluArgArgHisProThrAlaThrProCysGlyHisLeuPheCysTrpGluCysIleThrAlaTrpCysSerSerLysAlaGluCysProLeuCysArgGluLysPheProProGlnLysLeuIleTyrLeuArgHisTyrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693267"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 471,
          "referenceAllele": "C",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008851",
      "geneNCBI_id": 5192,
      "geneSymbol": "PEX10",
      "hgvs": [
        "NM_001374426.1:c.-81C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361355.1:n.-81C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693268"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 471,
          "referenceAllele": "C",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008851",
      "geneNCBI_id": 5192,
      "geneSymbol": "PEX10",
      "hgvs": [
        "NM_001374427.1:c.-81C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361356.1:n.-81C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693269"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829384818",
      "coordinates": [
        {
          "allele": "T",
          "end": 414,
          "referenceAllele": "C",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008851",
      "geneNCBI_id": 5192,
      "geneSymbol": "PEX10",
      "hgvs": [
        "NM_002617.4:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002608.1:p.Gln118Ter",
        "hgvsWellDefined": "NP_002608.1:p.Gln118_Arg326delinsAlaAspProAspSerGlyArgProLeuGlnGlySerLeuGlyProGlyGlyArgGlyCysSerGlyAlaArgArgTrpMetArgHisHisThrAlaThrLeuThrGluGlnGlnArgArgAlaLeuLeuArgAlaValPheValLeuArgGlnGlyLeuAlaCysLeuGlnArgLeuHisValAlaTrpPheTyrIleHisGlyValPheTyrHisLeuAlaLysArgLeuThrGlyIleThrTyrLeuArgValArgSerLeuProGlyGluAspLeuArgAlaArgValSerTyrArgLeuLeuGlyValIleSerLeuLeuHisLeuValLeuSerMetGlyLeuGlnLeuTyrGlyPheArgGlnArgGlnArgAlaArgLysGluTrpArgLeuHisArgGlyLeuSerHisArgArgAlaSerLeuGluGluArgAlaValSerArgAsnProLeuCysThrLeuCysLeuGluGluArgArgHisProThrAlaThrProCysGlyHisLeuPheCysTrpGluCysIleThrAlaTrpCysSerSerLysAlaGluCysProLeuCysArgGluLysPheProProGlnLysLeuIleTyrLeuArgHisTyrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695590",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000447513.7:c.352C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002617.4:c.352C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000407922.2:p.Gln118Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002608.1:p.Gln118Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA645477150",
      "coordinates": [
        {
          "allele": "T",
          "end": 414,
          "referenceAllele": "C",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008851",
      "geneNCBI_id": 5192,
      "geneSymbol": "PEX10",
      "hgvs": [
        "NM_153818.2:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_722540.1:p.Gln118Ter",
        "hgvsWellDefined": "NP_722540.1:p.Gln118_Arg346delinsAlaAspProAspSerGlyArgProLeuGlnGlySerLeuGlyProGlyGlyArgGlyCysSerGlyAlaArgArgTrpMetArgHisHisThrAlaThrLeuThrGluGlnGlnArgArgAlaLeuLeuArgAlaValPheValLeuArgGlnGlyLeuAlaCysLeuGlnArgLeuHisValAlaTrpPheTyrIleHisGlyValPheTyrHisLeuAlaLysArgLeuThrGlyIleThrTyrGlnAlaLeuArgProAspProLeuArgValLeuMetSerValAlaProSerAlaLeuGlnLeuArgValArgSerLeuProGlyGluAspLeuArgAlaArgValSerTyrArgLeuLeuGlyValIleSerLeuLeuHisLeuValLeuSerMetGlyLeuGlnLeuTyrGlyPheArgGlnArgGlnArgAlaArgLysGluTrpArgLeuHisArgGlyLeuSerHisArgArgAlaSerLeuGluGluArgAlaValSerArgAsnProLeuCysThrLeuCysLeuGluGluArgArgHisProThrAlaThrProCysGlyHisLeuPheCysTrpGluCysIleThrAlaTrpCysSerSerLysAlaGluCysProLeuCysArgGluLysPheProProGlnLysLeuIleTyrLeuArgHisTyrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 471,
          "referenceAllele": "C",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008851",
      "geneNCBI_id": 5192,
      "geneSymbol": "PEX10",
      "hgvs": [
        "NR_164636.1:n.471C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705749"
    }
  ],
  "type": "nucleotide"
}