{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA368199261",
  "communityStandardTitle": [
    "NM_000466.3(PEX1):c.877C>T (p.Gln293Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1960922[alleleid]",
        "alleleId": 1960922,
        "preferredName": "NM_000466.3(PEX1):c.877C>T (p.Gln293Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1902843",
        "RCV": [
          "RCV002583240",
          "RCV003475395"
        ],
        "variationId": 1902843
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.92146952G>A?assembly=hg19",
        "id": "chr7:g.92146952G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.92517638G>A?assembly=hg38",
        "id": "chr7:g.92517638G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1792857897",
        "rs": 1792857897
      }
    ]
  },
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      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 92517638,
          "referenceAllele": "G",
          "start": 92517637
        }
      ],
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        "NC_000007.14:g.92517638G>A",
        "CM000669.2:g.92517638G>A"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
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          "end": 92146952,
          "referenceAllele": "G",
          "start": 92146951
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      "hgvs": [
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        "CM000669.1:g.92146952G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
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          "end": 91984888,
          "referenceAllele": "G",
          "start": 91984887
        }
      ],
      "hgvs": [
        "NC_000007.12:g.91984888G>A"
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15894,
          "referenceAllele": "C",
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        }
      ],
      "hgvs": [
        "NG_008341.1:g.15894C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001042"
    },
    {
      "coordinates": [
        {
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      ],
      "hgvs": [
        "NG_008341.2:g.15894C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS673501"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 962,
          "referenceAllele": "C",
          "start": 961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000248633.9:c.877C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000248633.4:p.Gln293_Ala1283delinsProProSerIleTyrAsnAlaSerAlaThrSerValPheHisLysHisCysAlaIleHisValPheProTrpAspGlnGluTyrPheAspValGluProSerPheThrValThrTyrGlyLysLeuValLysLeuLeuSerProLysGlnGlnGlnSerLysThrLysGlnAsnValLeuSerProGluLysGluLysGlnMetSerGluProLeuAspGlnLysLysIleArgSerAspHisAsnGluGluAspGluLysAlaCysValLeuGlnValValTrpAsnGlyLeuGluGluLeuAsnAsnAlaIleLysTyrThrLysAsnValGluValLeuHisLeuGlyLysValTrpIleProAspAspLeuArgLysArgLeuAsnIleGluMetHisAlaValValArgIleThrProValGluValThrProLysIleProArgSerLeuLysLeuGlnProArgGluAsnLeuProLysAspIleSerGluGluAspIleLysThrValPheTyrSerTrpLeuGlnGlnSerThrThrThrMetLeuProLeuValIleSerGluGluGluPheIleLysLeuGluThrLysAspGlyLeuLysGluPheSerLeuSerIleValHisSerTrpGluLysGluLysAspLysAsnIlePheLeuLeuSerProAsnLeuLeuGlnLysThrThrIleGlnValLeuLeuAspProMetValLysGluGluAsnSerGluGluIleAspPheIleLeuProPheLeuLysLeuSerSerLeuGlyGlyValAsnSerLeuGlyValSerSerLeuGluHisIleThrHisSerLeuLeuGlyArgProLeuSerArgGlnLeuMetSerLeuValAlaGlyLeuArgAsnGlyAlaLeuLeuLeuThrGlyGlyLysGlySerGlyLysSerThrLeuAlaLysAlaIleCysLysGluAlaPheAspLysLeuAspAlaHisValGluArgValAspCysLysAlaLeuArgGlyLysArgLeuGluAsnIleGlnLysThrLeuGluValAlaPheSerGluAlaValTrpMetGlnProSerValValLeuLeuAspAspLeuAspLeuIleAlaGlyLeuProAlaValProGluHisGluHisSerProAspAlaValGlnSerGlnArgLeuAlaHisAlaLeuAsnAspMetIleLysGluPheIleSerMetGlySerLeuValAlaLeuIleAlaThrSerGlnSerGlnGlnSerLeuHisProLeuLeuValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741373",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000248633.9:c.877C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000466.3:c.877C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248633.4:p.Gln293Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000457.1:p.Gln293Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 973,
          "referenceAllele": "C",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000248633.8:c.877C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000248633.4:p.Gln293Ter",
        "hgvsWellDefined": "ENSP00000248633.4:p.Gln293_Ala1283delinsProProSerIleTyrAsnAlaSerAlaThrSerValPheHisLysHisCysAlaIleHisValPheProTrpAspGlnGluTyrPheAspValGluProSerPheThrValThrTyrGlyLysLeuValLysLeuLeuSerProLysGlnGlnGlnSerLysThrLysGlnAsnValLeuSerProGluLysGluLysGlnMetSerGluProLeuAspGlnLysLysIleArgSerAspHisAsnGluGluAspGluLysAlaCysValLeuGlnValValTrpAsnGlyLeuGluGluLeuAsnAsnAlaIleLysTyrThrLysAsnValGluValLeuHisLeuGlyLysValTrpIleProAspAspLeuArgLysArgLeuAsnIleGluMetHisAlaValValArgIleThrProValGluValThrProLysIleProArgSerLeuLysLeuGlnProArgGluAsnLeuProLysAspIleSerGluGluAspIleLysThrValPheTyrSerTrpLeuGlnGlnSerThrThrThrMetLeuProLeuValIleSerGluGluGluPheIleLysLeuGluThrLysAspGlyLeuLysGluPheSerLeuSerIleValHisSerTrpGluLysGluLysAspLysAsnIlePheLeuLeuSerProAsnLeuLeuGlnLysThrThrIleGlnValLeuLeuAspProMetValLysGluGluAsnSerGluGluIleAspPheIleLeuProPheLeuLysLeuSerSerLeuGlyGlyValAsnSerLeuGlyValSerSerLeuGluHisIleThrHisSerLeuLeuGlyArgProLeuSerArgGlnLeuMetSerLeuValAlaGlyLeuArgAsnGlyAlaLeuLeuLeuThrGlyGlyLysGlySerGlyLysSerThrLeuAlaLysAlaIleCysLysGluAlaPheAspLysLeuAspAlaHisValGluArgValAspCysLysAlaLeuArgGlyLysArgLeuGluAsnIleGlnLysThrLeuGluValAlaPheSerGluAlaValTrpMetGlnProSerValValLeuLeuAspAspLeuAspLeuIleAlaGlyLeuProAlaValProGluHisGluHisSerProAspAlaValGlnSerGlnArgLeuAlaHisAlaLeuAsnAspMetIleLysGluPheIleSerMetGlySerLeuValAlaLeuIleAlaThrSerGlnSerGlnGlnSerLeuHisProLeuLeuValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 877,
          "referenceAllele": "C",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000428214.5:c.877C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394413.1:p.Gln293Ter",
        "hgvsWellDefined": "ENSP00000394413.1:p.Gln293_Ala1226delinsProProSerIleTyrAsnAlaSerAlaThrSerValPheHisLysHisCysAlaIleHisValPheProTrpAspGlnGluTyrPheAspValGluProSerPheThrValThrTyrGlyLysLeuValLysLeuLeuSerProLysGlnGlnGlnSerLysThrLysGlnAsnValLeuSerProGluLysGluLysGlnMetSerGluProLeuAspGlnLysLysIleArgSerAspHisAsnGluGluAspGluLysAlaCysValLeuGlnValValTrpAsnGlyLeuGluGluLeuAsnAsnAlaIleLysTyrThrLysAsnValGluValLeuHisLeuGlyLysValTrpIleProAspAspLeuArgLysArgLeuAsnIleGluMetHisAlaValValArgIleThrProValGluValThrProLysIleProArgSerLeuLysLeuGlnProArgGluAsnLeuProLysAspIleSerGluGluAspIleLysThrValPheTyrSerTrpLeuGlnGlnSerThrThrThrMetLeuProLeuValIleSerGluGluGluPheIleLysLeuGluThrLysAspGlyLeuLysGluPheSerLeuSerIleValHisSerTrpGluLysGluLysAspLysAsnIlePheLeuLeuSerProAsnLeuLeuGlnLysThrThrIleGlnValLeuLeuAspProMetValLysGluGluAsnSerGluGluIleAspPheIleLeuProPheLeuLysLeuSerSerLeuGlyGlyValAsnSerLeuGlyValSerSerLeuGluHisIleThrHisSerLeuLeuGlyArgProLeuSerArgGlnLeuMetSerLeuValAlaGlyLeuArgAsnGlyAlaLeuLeuLeuThrGlyGlyLysGlySerGlyLysSerThrLeuAlaLysAlaIleCysLysGluAlaPheAspLysLeuAspAlaHisValGluArgValAspCysLysAlaLeuArgAlaLeuAsnAspMetIleLysGluPheIleSerMetGlySerLeuValAlaLeuIleAlaThrSerGlnSerGlnGlnSerLeuHisProLeuLeuValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 279,
          "endIntronDirection": "-",
          "endIntronOffset": 3670,
          "referenceAllele": "C",
          "start": 279,
          "startIntronDirection": "-",
          "startIntronOffset": 3671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000438045.5:c.274-3671C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410438.1:n.274-3671C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 916,
          "referenceAllele": "C",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000484913.5:n.916C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825182856",
      "coordinates": [
        {
          "allele": "T",
          "end": 973,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_000466.2:c.877C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000457.1:p.Gln293Ter",
        "hgvsWellDefined": "NP_000457.1:p.Gln293_Ala1283delinsProProSerIleTyrAsnAlaSerAlaThrSerValPheHisLysHisCysAlaIleHisValPheProTrpAspGlnGluTyrPheAspValGluProSerPheThrValThrTyrGlyLysLeuValLysLeuLeuSerProLysGlnGlnGlnSerLysThrLysGlnAsnValLeuSerProGluLysGluLysGlnMetSerGluProLeuAspGlnLysLysIleArgSerAspHisAsnGluGluAspGluLysAlaCysValLeuGlnValValTrpAsnGlyLeuGluGluLeuAsnAsnAlaIleLysTyrThrLysAsnValGluValLeuHisLeuGlyLysValTrpIleProAspAspLeuArgLysArgLeuAsnIleGluMetHisAlaValValArgIleThrProValGluValThrProLysIleProArgSerLeuLysLeuGlnProArgGluAsnLeuProLysAspIleSerGluGluAspIleLysThrValPheTyrSerTrpLeuGlnGlnSerThrThrThrMetLeuProLeuValIleSerGluGluGluPheIleLysLeuGluThrLysAspGlyLeuLysGluPheSerLeuSerIleValHisSerTrpGluLysGluLysAspLysAsnIlePheLeuLeuSerProAsnLeuLeuGlnLysThrThrIleGlnValLeuLeuAspProMetValLysGluGluAsnSerGluGluIleAspPheIleLeuProPheLeuLysLeuSerSerLeuGlyGlyValAsnSerLeuGlyValSerSerLeuGluHisIleThrHisSerLeuLeuGlyArgProLeuSerArgGlnLeuMetSerLeuValAlaGlyLeuArgAsnGlyAlaLeuLeuLeuThrGlyGlyLysGlySerGlyLysSerThrLeuAlaLysAlaIleCysLysGluAlaPheAspLysLeuAspAlaHisValGluArgValAspCysLysAlaLeuArgGlyLysArgLeuGluAsnIleGlnLysThrLeuGluValAlaPheSerGluAlaValTrpMetGlnProSerValValLeuLeuAspAspLeuAspLeuIleAlaGlyLeuProAlaValProGluHisGluHisSerProAspAlaValGlnSerGlnArgLeuAlaHisAlaLeuAsnAspMetIleLysGluPheIleSerMetGlySerLeuValAlaLeuIleAlaThrSerGlnSerGlnGlnSerLeuHisProLeuLeuValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006527"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826664740",
      "coordinates": [
        {
          "allele": "T",
          "end": 973,
          "referenceAllele": "C",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282677.1:c.877C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269606.1:p.Gln293Ter",
        "hgvsWellDefined": "NP_001269606.1:p.Gln293_Ala1226delinsProProSerIleTyrAsnAlaSerAlaThrSerValPheHisLysHisCysAlaIleHisValPheProTrpAspGlnGluTyrPheAspValGluProSerPheThrValThrTyrGlyLysLeuValLysLeuLeuSerProLysGlnGlnGlnSerLysThrLysGlnAsnValLeuSerProGluLysGluLysGlnMetSerGluProLeuAspGlnLysLysIleArgSerAspHisAsnGluGluAspGluLysAlaCysValLeuGlnValValTrpAsnGlyLeuGluGluLeuAsnAsnAlaIleLysTyrThrLysAsnValGluValLeuHisLeuGlyLysValTrpIleProAspAspLeuArgLysArgLeuAsnIleGluMetHisAlaValValArgIleThrProValGluValThrProLysIleProArgSerLeuLysLeuGlnProArgGluAsnLeuProLysAspIleSerGluGluAspIleLysThrValPheTyrSerTrpLeuGlnGlnSerThrThrThrMetLeuProLeuValIleSerGluGluGluPheIleLysLeuGluThrLysAspGlyLeuLysGluPheSerLeuSerIleValHisSerTrpGluLysGluLysAspLysAsnIlePheLeuLeuSerProAsnLeuLeuGlnLysThrThrIleGlnValLeuLeuAspProMetValLysGluGluAsnSerGluGluIleAspPheIleLeuProPheLeuLysLeuSerSerLeuGlyGlyValAsnSerLeuGlyValSerSerLeuGluHisIleThrHisSerLeuLeuGlyArgProLeuSerArgGlnLeuMetSerLeuValAlaGlyLeuArgAsnGlyAlaLeuLeuLeuThrGlyGlyLysGlySerGlyLysSerThrLeuAlaLysAlaIleCysLysGluAlaPheAspLysLeuAspAlaHisValGluArgValAspCysLysAlaLeuArgAlaLeuAsnAspMetIleLysGluPheIleSerMetGlySerLeuValAlaLeuIleAlaThrSerGlnSerGlnGlnSerLeuHisProLeuLeuValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022148"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580189288",
      "coordinates": [
        {
          "allele": "T",
          "end": 1008,
          "referenceAllele": "C",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282678.1:c.253C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269607.1:p.Gln85Ter",
        "hgvsWellDefined": "NP_001269607.1:p.Gln85_Ala1075delinsProProSerIleTyrAsnAlaSerAlaThrSerValPheHisLysHisCysAlaIleHisValPheProTrpAspGlnGluTyrPheAspValGluProSerPheThrValThrTyrGlyLysLeuValLysLeuLeuSerProLysGlnGlnGlnSerLysThrLysGlnAsnValLeuSerProGluLysGluLysGlnMetSerGluProLeuAspGlnLysLysIleArgSerAspHisAsnGluGluAspGluLysAlaCysValLeuGlnValValTrpAsnGlyLeuGluGluLeuAsnAsnAlaIleLysTyrThrLysAsnValGluValLeuHisLeuGlyLysValTrpIleProAspAspLeuArgLysArgLeuAsnIleGluMetHisAlaValValArgIleThrProValGluValThrProLysIleProArgSerLeuLysLeuGlnProArgGluAsnLeuProLysAspIleSerGluGluAspIleLysThrValPheTyrSerTrpLeuGlnGlnSerThrThrThrMetLeuProLeuValIleSerGluGluGluPheIleLysLeuGluThrLysAspGlyLeuLysGluPheSerLeuSerIleValHisSerTrpGluLysGluLysAspLysAsnIlePheLeuLeuSerProAsnLeuLeuGlnLysThrThrIleGlnValLeuLeuAspProMetValLysGluGluAsnSerGluGluIleAspPheIleLeuProPheLeuLysLeuSerSerLeuGlyGlyValAsnSerLeuGlyValSerSerLeuGluHisIleThrHisSerLeuLeuGlyArgProLeuSerArgGlnLeuMetSerLeuValAlaGlyLeuArgAsnGlyAlaLeuLeuLeuThrGlyGlyLysGlySerGlyLysSerThrLeuAlaLysAlaIleCysLysGluAlaPheAspLysLeuAspAlaHisValGluArgValAspCysLysAlaLeuArgGlyLysArgLeuGluAsnIleGlnLysThrLeuGluValAlaPheSerGluAlaValTrpMetGlnProSerValValLeuLeuAspAspLeuAspLeuIleAlaGlyLeuProAlaValProGluHisGluHisSerProAspAlaValGlnSerGlnArgLeuAlaHisAlaLeuAsnAspMetIleLysGluPheIleSerMetGlySerLeuValAlaLeuIleAlaThrSerGlnSerGlnGlnSerLeuHisProLeuLeuValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022149"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 973,
          "referenceAllele": "C",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_242246.3:n.973C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 924,
          "referenceAllele": "C",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_242246.5:n.924C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605897"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825182856",
      "coordinates": [
        {
          "allele": "T",
          "end": 962,
          "referenceAllele": "C",
          "start": 961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_000466.3:c.877C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000457.1:p.Gln293Ter",
        "hgvsWellDefined": "NP_000457.1:p.Gln293_Ala1283delinsProProSerIleTyrAsnAlaSerAlaThrSerValPheHisLysHisCysAlaIleHisValPheProTrpAspGlnGluTyrPheAspValGluProSerPheThrValThrTyrGlyLysLeuValLysLeuLeuSerProLysGlnGlnGlnSerLysThrLysGlnAsnValLeuSerProGluLysGluLysGlnMetSerGluProLeuAspGlnLysLysIleArgSerAspHisAsnGluGluAspGluLysAlaCysValLeuGlnValValTrpAsnGlyLeuGluGluLeuAsnAsnAlaIleLysTyrThrLysAsnValGluValLeuHisLeuGlyLysValTrpIleProAspAspLeuArgLysArgLeuAsnIleGluMetHisAlaValValArgIleThrProValGluValThrProLysIleProArgSerLeuLysLeuGlnProArgGluAsnLeuProLysAspIleSerGluGluAspIleLysThrValPheTyrSerTrpLeuGlnGlnSerThrThrThrMetLeuProLeuValIleSerGluGluGluPheIleLysLeuGluThrLysAspGlyLeuLysGluPheSerLeuSerIleValHisSerTrpGluLysGluLysAspLysAsnIlePheLeuLeuSerProAsnLeuLeuGlnLysThrThrIleGlnValLeuLeuAspProMetValLysGluGluAsnSerGluGluIleAspPheIleLeuProPheLeuLysLeuSerSerLeuGlyGlyValAsnSerLeuGlyValSerSerLeuGluHisIleThrHisSerLeuLeuGlyArgProLeuSerArgGlnLeuMetSerLeuValAlaGlyLeuArgAsnGlyAlaLeuLeuLeuThrGlyGlyLysGlySerGlyLysSerThrLeuAlaLysAlaIleCysLysGluAlaPheAspLysLeuAspAlaHisValGluArgValAspCysLysAlaLeuArgGlyLysArgLeuGluAsnIleGlnLysThrLeuGluValAlaPheSerGluAlaValTrpMetGlnProSerValValLeuLeuAspAspLeuAspLeuIleAlaGlyLeuProAlaValProGluHisGluHisSerProAspAlaValGlnSerGlnArgLeuAlaHisAlaLeuAsnAspMetIleLysGluPheIleSerMetGlySerLeuValAlaLeuIleAlaThrSerGlnSerGlnGlnSerLeuHisProLeuLeuValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662453",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000248633.9:c.877C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000466.3:c.877C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248633.4:p.Gln293Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000457.1:p.Gln293Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826664740",
      "coordinates": [
        {
          "allele": "T",
          "end": 962,
          "referenceAllele": "C",
          "start": 961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282677.2:c.877C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269606.1:p.Gln293Ter",
        "hgvsWellDefined": "NP_001269606.1:p.Gln293_Ala1226delinsProProSerIleTyrAsnAlaSerAlaThrSerValPheHisLysHisCysAlaIleHisValPheProTrpAspGlnGluTyrPheAspValGluProSerPheThrValThrTyrGlyLysLeuValLysLeuLeuSerProLysGlnGlnGlnSerLysThrLysGlnAsnValLeuSerProGluLysGluLysGlnMetSerGluProLeuAspGlnLysLysIleArgSerAspHisAsnGluGluAspGluLysAlaCysValLeuGlnValValTrpAsnGlyLeuGluGluLeuAsnAsnAlaIleLysTyrThrLysAsnValGluValLeuHisLeuGlyLysValTrpIleProAspAspLeuArgLysArgLeuAsnIleGluMetHisAlaValValArgIleThrProValGluValThrProLysIleProArgSerLeuLysLeuGlnProArgGluAsnLeuProLysAspIleSerGluGluAspIleLysThrValPheTyrSerTrpLeuGlnGlnSerThrThrThrMetLeuProLeuValIleSerGluGluGluPheIleLysLeuGluThrLysAspGlyLeuLysGluPheSerLeuSerIleValHisSerTrpGluLysGluLysAspLysAsnIlePheLeuLeuSerProAsnLeuLeuGlnLysThrThrIleGlnValLeuLeuAspProMetValLysGluGluAsnSerGluGluIleAspPheIleLeuProPheLeuLysLeuSerSerLeuGlyGlyValAsnSerLeuGlyValSerSerLeuGluHisIleThrHisSerLeuLeuGlyArgProLeuSerArgGlnLeuMetSerLeuValAlaGlyLeuArgAsnGlyAlaLeuLeuLeuThrGlyGlyLysGlySerGlyLysSerThrLeuAlaLysAlaIleCysLysGluAlaPheAspLysLeuAspAlaHisValGluArgValAspCysLysAlaLeuArgAlaLeuAsnAspMetIleLysGluPheIleSerMetGlySerLeuValAlaLeuIleAlaThrSerGlnSerGlnGlnSerLeuHisProLeuLeuValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681861"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580189288",
      "coordinates": [
        {
          "allele": "T",
          "end": 997,
          "referenceAllele": "C",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282678.2:c.253C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269607.1:p.Gln85Ter",
        "hgvsWellDefined": "NP_001269607.1:p.Gln85_Ala1075delinsProProSerIleTyrAsnAlaSerAlaThrSerValPheHisLysHisCysAlaIleHisValPheProTrpAspGlnGluTyrPheAspValGluProSerPheThrValThrTyrGlyLysLeuValLysLeuLeuSerProLysGlnGlnGlnSerLysThrLysGlnAsnValLeuSerProGluLysGluLysGlnMetSerGluProLeuAspGlnLysLysIleArgSerAspHisAsnGluGluAspGluLysAlaCysValLeuGlnValValTrpAsnGlyLeuGluGluLeuAsnAsnAlaIleLysTyrThrLysAsnValGluValLeuHisLeuGlyLysValTrpIleProAspAspLeuArgLysArgLeuAsnIleGluMetHisAlaValValArgIleThrProValGluValThrProLysIleProArgSerLeuLysLeuGlnProArgGluAsnLeuProLysAspIleSerGluGluAspIleLysThrValPheTyrSerTrpLeuGlnGlnSerThrThrThrMetLeuProLeuValIleSerGluGluGluPheIleLysLeuGluThrLysAspGlyLeuLysGluPheSerLeuSerIleValHisSerTrpGluLysGluLysAspLysAsnIlePheLeuLeuSerProAsnLeuLeuGlnLysThrThrIleGlnValLeuLeuAspProMetValLysGluGluAsnSerGluGluIleAspPheIleLeuProPheLeuLysLeuSerSerLeuGlyGlyValAsnSerLeuGlyValSerSerLeuGluHisIleThrHisSerLeuLeuGlyArgProLeuSerArgGlnLeuMetSerLeuValAlaGlyLeuArgAsnGlyAlaLeuLeuLeuThrGlyGlyLysGlySerGlyLysSerThrLeuAlaLysAlaIleCysLysGluAlaPheAspLysLeuAspAlaHisValGluArgValAspCysLysAlaLeuArgGlyLysArgLeuGluAsnIleGlnLysThrLeuGluValAlaPheSerGluAlaValTrpMetGlnProSerValValLeuLeuAspAspLeuAspLeuIleAlaGlyLeuProAlaValProGluHisGluHisSerProAspAlaValGlnSerGlnArgLeuAlaHisAlaLeuAsnAspMetIleLysGluPheIleSerMetGlySerLeuValAlaLeuIleAlaThrSerGlnSerGlnGlnSerLeuHisProLeuLeuValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681862"
    }
  ],
  "type": "nucleotide"
}