{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041161",
  "communityStandardTitle": [
    "NM_000466.3(PEX1):c.1765G>T (p.Gly589Ter)"
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  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357607[alleleid]",
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        "preferredName": "NM_000466.3(PEX1):c.1765G>T (p.Gly589Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/371726",
        "RCV": [
          "RCV000409232",
          "RCV000411702"
        ],
        "variationId": 371726
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.92136346C>A?assembly=hg19",
        "id": "chr7:g.92136346C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.92507032C>A?assembly=hg38",
        "id": "chr7:g.92507032C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517489",
        "rs": 1057517489
      }
    ]
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      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
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        "CM000669.2:g.92507032C>A"
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "7",
      "coordinates": [
        {
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        "CM000669.1:g.92136346C>A"
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "7",
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      "referenceGenome": "NCBI36",
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS001042"
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      "referenceSequence": "http://reg.genome.network/refseq/RS673501"
    }
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    {
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "NM_000466.3:c.1765G>T"
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            "hgvs": "ENSP00000248633.4:p.Gly589Ter"
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      "referenceSequence": "http://reg.genome.network/refseq/RS249574"
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      "referenceSequence": "http://reg.genome.network/refseq/RS287476"
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      "referenceSequence": "http://reg.genome.network/refseq/RS290087"
    },
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        {
          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS294744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS324059"
    },
    {
      "coordinates": [
        {
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS332889"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645510288",
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          "allele": "T",
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        }
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006527"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916013761",
      "coordinates": [
        {
          "allele": "T",
          "end": 1861,
          "referenceAllele": "G",
          "start": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282677.1:c.1765G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269606.1:p.Gly589Ter",
        "hgvsWellDefined": "NP_001269606.1:p.Gly589_Ala1226delinsLeuArgAsnGlyAlaLeuLeuLeuThrGlyGlyLysGlySerGlyLysSerThrLeuAlaLysAlaIleCysLysGluAlaPheAspLysLeuAspAlaHisValGluArgValAspCysLysAlaLeuArgAlaLeuAsnAspMetIleLysGluPheIleSerMetGlySerLeuValAlaLeuIleAlaThrSerGlnSerGlnGlnSerLeuHisProLeuLeuValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022148"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826665603",
      "coordinates": [
        {
          "allele": "T",
          "end": 1896,
          "referenceAllele": "G",
          "start": 1895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282678.1:c.1141G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269607.1:p.Gly381Ter",
        "hgvsWellDefined": "NP_001269607.1:p.Gly381_Ala1075delinsLeuArgAsnGlyAlaLeuLeuLeuThrGlyGlyLysGlySerGlyLysSerThrLeuAlaLysAlaIleCysLysGluAlaPheAspLysLeuAspAlaHisValGluArgValAspCysLysAlaLeuArgGlyLysArgLeuGluAsnIleGlnLysThrLeuGluValAlaPheSerGluAlaValTrpMetGlnProSerValValLeuLeuAspAspLeuAspLeuIleAlaGlyLeuProAlaValProGluHisGluHisSerProAspAlaValGlnSerGlnArgLeuAlaHisAlaLeuAsnAspMetIleLysGluPheIleSerMetGlySerLeuValAlaLeuIleAlaThrSerGlnSerGlnGlnSerLeuHisProLeuLeuValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022149"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 397,
          "referenceAllele": "G",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XM_005250433.3:c.16G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250490.1:p.Gly6Ter",
        "hgvsWellDefined": "XP_005250490.1:p.Gly6_Ala700delinsLeuArgAsnGlyAlaLeuLeuLeuThrGlyGlyLysGlySerGlyLysSerThrLeuAlaLysAlaIleCysLysGluAlaPheAspLysLeuAspAlaHisValGluArgValAspCysLysAlaLeuArgGlyLysArgLeuGluAsnIleGlnLysThrLeuGluValAlaPheSerGluAlaValTrpMetGlnProSerValValLeuLeuAspAspLeuAspLeuIleAlaGlyLeuProAlaValProGluHisGluHisSerProAspAlaValGlnSerGlnArgLeuAlaHisAlaLeuAsnAspMetIleLysGluPheIleSerMetGlySerLeuValAlaLeuIleAlaThrSerGlnSerGlnGlnSerLeuHisProLeuLeuValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1861,
          "referenceAllele": "G",
          "start": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_242246.3:n.1861G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 792,
          "referenceAllele": "G",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XM_017012319.2:c.16G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867808.1:p.Gly6Ter",
        "hgvsWellDefined": "XP_016867808.1:p.Gly6_Ala700delinsLeuArgAsnGlyAlaLeuLeuLeuThrGlyGlyLysGlySerGlyLysSerThrLeuAlaLysAlaIleCysLysGluAlaPheAspLysLeuAspAlaHisValGluArgValAspCysLysAlaLeuArgGlyLysArgLeuGluAsnIleGlnLysThrLeuGluValAlaPheSerGluAlaValTrpMetGlnProSerValValLeuLeuAspAspLeuAspLeuIleAlaGlyLeuProAlaValProGluHisGluHisSerProAspAlaValGlnSerGlnArgLeuAlaHisAlaLeuAsnAspMetIleLysGluPheIleSerMetGlySerLeuValAlaLeuIleAlaThrSerGlnSerGlnGlnSerLeuHisProLeuLeuValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565949"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 792,
          "referenceAllele": "G",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_001744808.2:n.792G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593459"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1812,
          "referenceAllele": "G",
          "start": 1811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_242246.5:n.1812G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605897"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645510288",
      "coordinates": [
        {
          "allele": "T",
          "end": 1850,
          "referenceAllele": "G",
          "start": 1849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_000466.3:c.1765G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000457.1:p.Gly589Ter",
        "hgvsWellDefined": "NP_000457.1:p.Gly589_Ala1283delinsLeuArgAsnGlyAlaLeuLeuLeuThrGlyGlyLysGlySerGlyLysSerThrLeuAlaLysAlaIleCysLysGluAlaPheAspLysLeuAspAlaHisValGluArgValAspCysLysAlaLeuArgGlyLysArgLeuGluAsnIleGlnLysThrLeuGluValAlaPheSerGluAlaValTrpMetGlnProSerValValLeuLeuAspAspLeuAspLeuIleAlaGlyLeuProAlaValProGluHisGluHisSerProAspAlaValGlnSerGlnArgLeuAlaHisAlaLeuAsnAspMetIleLysGluPheIleSerMetGlySerLeuValAlaLeuIleAlaThrSerGlnSerGlnGlnSerLeuHisProLeuLeuValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662453",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000248633.9:c.1765G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000466.3:c.1765G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248633.4:p.Gly589Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000457.1:p.Gly589Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916013761",
      "coordinates": [
        {
          "allele": "T",
          "end": 1850,
          "referenceAllele": "G",
          "start": 1849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282677.2:c.1765G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269606.1:p.Gly589Ter",
        "hgvsWellDefined": "NP_001269606.1:p.Gly589_Ala1226delinsLeuArgAsnGlyAlaLeuLeuLeuThrGlyGlyLysGlySerGlyLysSerThrLeuAlaLysAlaIleCysLysGluAlaPheAspLysLeuAspAlaHisValGluArgValAspCysLysAlaLeuArgAlaLeuAsnAspMetIleLysGluPheIleSerMetGlySerLeuValAlaLeuIleAlaThrSerGlnSerGlnGlnSerLeuHisProLeuLeuValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681861"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826665603",
      "coordinates": [
        {
          "allele": "T",
          "end": 1885,
          "referenceAllele": "G",
          "start": 1884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282678.2:c.1141G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269607.1:p.Gly381Ter",
        "hgvsWellDefined": "NP_001269607.1:p.Gly381_Ala1075delinsLeuArgAsnGlyAlaLeuLeuLeuThrGlyGlyLysGlySerGlyLysSerThrLeuAlaLysAlaIleCysLysGluAlaPheAspLysLeuAspAlaHisValGluArgValAspCysLysAlaLeuArgGlyLysArgLeuGluAsnIleGlnLysThrLeuGluValAlaPheSerGluAlaValTrpMetGlnProSerValValLeuLeuAspAspLeuAspLeuIleAlaGlyLeuProAlaValProGluHisGluHisSerProAspAlaValGlnSerGlnArgLeuAlaHisAlaLeuAsnAspMetIleLysGluPheIleSerMetGlySerLeuValAlaLeuIleAlaThrSerGlnSerGlnGlnSerLeuHisProLeuLeuValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681862"
    }
  ],
  "type": "nucleotide"
}