{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA368197640",
  "communityStandardTitle": [
    "NM_000466.3(PEX1):c.1163G>A (p.Trp388Ter)"
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  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=636451[alleleid]",
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        "preferredName": "NM_000466.3(PEX1):c.1163G>A (p.Trp388Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/639480",
        "RCV": [
          "RCV002234193"
        ],
        "variationId": 639480
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.92146666C>T?assembly=hg19",
        "id": "chr7:g.92146666C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.92517352C>T?assembly=hg38",
        "id": "chr7:g.92517352C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1585254187",
        "rs": 1585254187
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    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-92517352-C-T?dataset=gnomad_r4",
        "id": "7-92517352-C-T",
        "variant": "7:92517352 C / T"
      }
    ]
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      "chromosome": "7",
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        "CM000669.2:g.92517352C>T"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
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          "end": 92146666,
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        "CM000669.1:g.92146666C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
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          "end": 91984602,
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS001042"
    },
    {
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        }
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        "NG_008341.2:g.16180G>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS673501"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741373",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000248633.9:c.1163G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000466.3:c.1163G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248633.4:p.Trp388Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000457.1:p.Trp388Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
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        }
      ],
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      "geneNCBI_id": 5189,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249574"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 64,
          "referenceAllele": "G",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000422866.1:c.64G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS287476"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1163,
          "referenceAllele": "G",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000394413.1:p.Trp388_Ala1226delinsAsnGlyLeuGluGluLeuAsnAsnAlaIleLysTyrThrLysAsnValGluValLeuHisLeuGlyLysValTrpIleProAspAspLeuArgLysArgLeuAsnIleGluMetHisAlaValValArgIleThrProValGluValThrProLysIleProArgSerLeuLysLeuGlnProArgGluAsnLeuProLysAspIleSerGluGluAspIleLysThrValPheTyrSerTrpLeuGlnGlnSerThrThrThrMetLeuProLeuValIleSerGluGluGluPheIleLysLeuGluThrLysAspGlyLeuLysGluPheSerLeuSerIleValHisSerTrpGluLysGluLysAspLysAsnIlePheLeuLeuSerProAsnLeuLeuGlnLysThrThrIleGlnValLeuLeuAspProMetValLysGluGluAsnSerGluGluIleAspPheIleLeuProPheLeuLysLeuSerSerLeuGlyGlyValAsnSerLeuGlyValSerSerLeuGluHisIleThrHisSerLeuLeuGlyArgProLeuSerArgGlnLeuMetSerLeuValAlaGlyLeuArgAsnGlyAlaLeuLeuLeuThrGlyGlyLysGlySerGlyLysSerThrLeuAlaLysAlaIleCysLysGluAlaPheAspLysLeuAspAlaHisValGluArgValAspCysLysAlaLeuArgAlaLeuAsnAspMetIleLysGluPheIleSerMetGlySerLeuValAlaLeuIleAlaThrSerGlnSerGlnGlnSerLeuHisProLeuLeuValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 279,
          "endIntronDirection": "-",
          "endIntronOffset": 3384,
          "referenceAllele": "G",
          "start": 279,
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        }
      ],
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS294744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1202,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS324059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825182982",
      "coordinates": [
        {
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        }
      ],
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_000457.1:p.Trp388Ter",
        "hgvsWellDefined": "NP_000457.1:p.Trp388_Ala1283delinsAsnGlyLeuGluGluLeuAsnAsnAlaIleLysTyrThrLysAsnValGluValLeuHisLeuGlyLysValTrpIleProAspAspLeuArgLysArgLeuAsnIleGluMetHisAlaValValArgIleThrProValGluValThrProLysIleProArgSerLeuLysLeuGlnProArgGluAsnLeuProLysAspIleSerGluGluAspIleLysThrValPheTyrSerTrpLeuGlnGlnSerThrThrThrMetLeuProLeuValIleSerGluGluGluPheIleLysLeuGluThrLysAspGlyLeuLysGluPheSerLeuSerIleValHisSerTrpGluLysGluLysAspLysAsnIlePheLeuLeuSerProAsnLeuLeuGlnLysThrThrIleGlnValLeuLeuAspProMetValLysGluGluAsnSerGluGluIleAspPheIleLeuProPheLeuLysLeuSerSerLeuGlyGlyValAsnSerLeuGlyValSerSerLeuGluHisIleThrHisSerLeuLeuGlyArgProLeuSerArgGlnLeuMetSerLeuValAlaGlyLeuArgAsnGlyAlaLeuLeuLeuThrGlyGlyLysGlySerGlyLysSerThrLeuAlaLysAlaIleCysLysGluAlaPheAspLysLeuAspAlaHisValGluArgValAspCysLysAlaLeuArgGlyLysArgLeuGluAsnIleGlnLysThrLeuGluValAlaPheSerGluAlaValTrpMetGlnProSerValValLeuLeuAspAspLeuAspLeuIleAlaGlyLeuProAlaValProGluHisGluHisSerProAspAlaValGlnSerGlnArgLeuAlaHisAlaLeuAsnAspMetIleLysGluPheIleSerMetGlySerLeuValAlaLeuIleAlaThrSerGlnSerGlnGlnSerLeuHisProLeuLeuValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006527"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916013715",
      "coordinates": [
        {
          "allele": "A",
          "end": 1259,
          "referenceAllele": "G",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282677.1:c.1163G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269606.1:p.Trp388Ter",
        "hgvsWellDefined": "NP_001269606.1:p.Trp388_Ala1226delinsAsnGlyLeuGluGluLeuAsnAsnAlaIleLysTyrThrLysAsnValGluValLeuHisLeuGlyLysValTrpIleProAspAspLeuArgLysArgLeuAsnIleGluMetHisAlaValValArgIleThrProValGluValThrProLysIleProArgSerLeuLysLeuGlnProArgGluAsnLeuProLysAspIleSerGluGluAspIleLysThrValPheTyrSerTrpLeuGlnGlnSerThrThrThrMetLeuProLeuValIleSerGluGluGluPheIleLysLeuGluThrLysAspGlyLeuLysGluPheSerLeuSerIleValHisSerTrpGluLysGluLysAspLysAsnIlePheLeuLeuSerProAsnLeuLeuGlnLysThrThrIleGlnValLeuLeuAspProMetValLysGluGluAsnSerGluGluIleAspPheIleLeuProPheLeuLysLeuSerSerLeuGlyGlyValAsnSerLeuGlyValSerSerLeuGluHisIleThrHisSerLeuLeuGlyArgProLeuSerArgGlnLeuMetSerLeuValAlaGlyLeuArgAsnGlyAlaLeuLeuLeuThrGlyGlyLysGlySerGlyLysSerThrLeuAlaLysAlaIleCysLysGluAlaPheAspLysLeuAspAlaHisValGluArgValAspCysLysAlaLeuArgAlaLeuAsnAspMetIleLysGluPheIleSerMetGlySerLeuValAlaLeuIleAlaThrSerGlnSerGlnGlnSerLeuHisProLeuLeuValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022148"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826665425",
      "coordinates": [
        {
          "allele": "A",
          "end": 1294,
          "referenceAllele": "G",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282678.1:c.539G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269607.1:p.Trp180Ter",
        "hgvsWellDefined": "NP_001269607.1:p.Trp180_Ala1075delinsAsnGlyLeuGluGluLeuAsnAsnAlaIleLysTyrThrLysAsnValGluValLeuHisLeuGlyLysValTrpIleProAspAspLeuArgLysArgLeuAsnIleGluMetHisAlaValValArgIleThrProValGluValThrProLysIleProArgSerLeuLysLeuGlnProArgGluAsnLeuProLysAspIleSerGluGluAspIleLysThrValPheTyrSerTrpLeuGlnGlnSerThrThrThrMetLeuProLeuValIleSerGluGluGluPheIleLysLeuGluThrLysAspGlyLeuLysGluPheSerLeuSerIleValHisSerTrpGluLysGluLysAspLysAsnIlePheLeuLeuSerProAsnLeuLeuGlnLysThrThrIleGlnValLeuLeuAspProMetValLysGluGluAsnSerGluGluIleAspPheIleLeuProPheLeuLysLeuSerSerLeuGlyGlyValAsnSerLeuGlyValSerSerLeuGluHisIleThrHisSerLeuLeuGlyArgProLeuSerArgGlnLeuMetSerLeuValAlaGlyLeuArgAsnGlyAlaLeuLeuLeuThrGlyGlyLysGlySerGlyLysSerThrLeuAlaLysAlaIleCysLysGluAlaPheAspLysLeuAspAlaHisValGluArgValAspCysLysAlaLeuArgGlyLysArgLeuGluAsnIleGlnLysThrLeuGluValAlaPheSerGluAlaValTrpMetGlnProSerValValLeuLeuAspAspLeuAspLeuIleAlaGlyLeuProAlaValProGluHisGluHisSerProAspAlaValGlnSerGlnArgLeuAlaHisAlaLeuAsnAspMetIleLysGluPheIleSerMetGlySerLeuValAlaLeuIleAlaThrSerGlnSerGlnGlnSerLeuHisProLeuLeuValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022149"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1259,
          "referenceAllele": "G",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_242246.3:n.1259G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116232"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 273,
          "referenceAllele": "G",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XM_017012319.2:c.-504G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867808.1:n.-504G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565949"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 273,
          "referenceAllele": "G",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_001744808.2:n.273G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593459"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1210,
          "referenceAllele": "G",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_242246.5:n.1210G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605897"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825182982",
      "coordinates": [
        {
          "allele": "A",
          "end": 1248,
          "referenceAllele": "G",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_000466.3:c.1163G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000457.1:p.Trp388Ter",
        "hgvsWellDefined": "NP_000457.1:p.Trp388_Ala1283delinsAsnGlyLeuGluGluLeuAsnAsnAlaIleLysTyrThrLysAsnValGluValLeuHisLeuGlyLysValTrpIleProAspAspLeuArgLysArgLeuAsnIleGluMetHisAlaValValArgIleThrProValGluValThrProLysIleProArgSerLeuLysLeuGlnProArgGluAsnLeuProLysAspIleSerGluGluAspIleLysThrValPheTyrSerTrpLeuGlnGlnSerThrThrThrMetLeuProLeuValIleSerGluGluGluPheIleLysLeuGluThrLysAspGlyLeuLysGluPheSerLeuSerIleValHisSerTrpGluLysGluLysAspLysAsnIlePheLeuLeuSerProAsnLeuLeuGlnLysThrThrIleGlnValLeuLeuAspProMetValLysGluGluAsnSerGluGluIleAspPheIleLeuProPheLeuLysLeuSerSerLeuGlyGlyValAsnSerLeuGlyValSerSerLeuGluHisIleThrHisSerLeuLeuGlyArgProLeuSerArgGlnLeuMetSerLeuValAlaGlyLeuArgAsnGlyAlaLeuLeuLeuThrGlyGlyLysGlySerGlyLysSerThrLeuAlaLysAlaIleCysLysGluAlaPheAspLysLeuAspAlaHisValGluArgValAspCysLysAlaLeuArgGlyLysArgLeuGluAsnIleGlnLysThrLeuGluValAlaPheSerGluAlaValTrpMetGlnProSerValValLeuLeuAspAspLeuAspLeuIleAlaGlyLeuProAlaValProGluHisGluHisSerProAspAlaValGlnSerGlnArgLeuAlaHisAlaLeuAsnAspMetIleLysGluPheIleSerMetGlySerLeuValAlaLeuIleAlaThrSerGlnSerGlnGlnSerLeuHisProLeuLeuValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662453",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000248633.9:c.1163G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000466.3:c.1163G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248633.4:p.Trp388Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000457.1:p.Trp388Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916013715",
      "coordinates": [
        {
          "allele": "A",
          "end": 1248,
          "referenceAllele": "G",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282677.2:c.1163G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269606.1:p.Trp388Ter",
        "hgvsWellDefined": "NP_001269606.1:p.Trp388_Ala1226delinsAsnGlyLeuGluGluLeuAsnAsnAlaIleLysTyrThrLysAsnValGluValLeuHisLeuGlyLysValTrpIleProAspAspLeuArgLysArgLeuAsnIleGluMetHisAlaValValArgIleThrProValGluValThrProLysIleProArgSerLeuLysLeuGlnProArgGluAsnLeuProLysAspIleSerGluGluAspIleLysThrValPheTyrSerTrpLeuGlnGlnSerThrThrThrMetLeuProLeuValIleSerGluGluGluPheIleLysLeuGluThrLysAspGlyLeuLysGluPheSerLeuSerIleValHisSerTrpGluLysGluLysAspLysAsnIlePheLeuLeuSerProAsnLeuLeuGlnLysThrThrIleGlnValLeuLeuAspProMetValLysGluGluAsnSerGluGluIleAspPheIleLeuProPheLeuLysLeuSerSerLeuGlyGlyValAsnSerLeuGlyValSerSerLeuGluHisIleThrHisSerLeuLeuGlyArgProLeuSerArgGlnLeuMetSerLeuValAlaGlyLeuArgAsnGlyAlaLeuLeuLeuThrGlyGlyLysGlySerGlyLysSerThrLeuAlaLysAlaIleCysLysGluAlaPheAspLysLeuAspAlaHisValGluArgValAspCysLysAlaLeuArgAlaLeuAsnAspMetIleLysGluPheIleSerMetGlySerLeuValAlaLeuIleAlaThrSerGlnSerGlnGlnSerLeuHisProLeuLeuValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681861"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826665425",
      "coordinates": [
        {
          "allele": "A",
          "end": 1283,
          "referenceAllele": "G",
          "start": 1282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282678.2:c.539G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269607.1:p.Trp180Ter",
        "hgvsWellDefined": "NP_001269607.1:p.Trp180_Ala1075delinsAsnGlyLeuGluGluLeuAsnAsnAlaIleLysTyrThrLysAsnValGluValLeuHisLeuGlyLysValTrpIleProAspAspLeuArgLysArgLeuAsnIleGluMetHisAlaValValArgIleThrProValGluValThrProLysIleProArgSerLeuLysLeuGlnProArgGluAsnLeuProLysAspIleSerGluGluAspIleLysThrValPheTyrSerTrpLeuGlnGlnSerThrThrThrMetLeuProLeuValIleSerGluGluGluPheIleLysLeuGluThrLysAspGlyLeuLysGluPheSerLeuSerIleValHisSerTrpGluLysGluLysAspLysAsnIlePheLeuLeuSerProAsnLeuLeuGlnLysThrThrIleGlnValLeuLeuAspProMetValLysGluGluAsnSerGluGluIleAspPheIleLeuProPheLeuLysLeuSerSerLeuGlyGlyValAsnSerLeuGlyValSerSerLeuGluHisIleThrHisSerLeuLeuGlyArgProLeuSerArgGlnLeuMetSerLeuValAlaGlyLeuArgAsnGlyAlaLeuLeuLeuThrGlyGlyLysGlySerGlyLysSerThrLeuAlaLysAlaIleCysLysGluAlaPheAspLysLeuAspAlaHisValGluArgValAspCysLysAlaLeuArgGlyLysArgLeuGluAsnIleGlnLysThrLeuGluValAlaPheSerGluAlaValTrpMetGlnProSerValValLeuLeuAspAspLeuAspLeuIleAlaGlyLeuProAlaValProGluHisGluHisSerProAspAlaValGlnSerGlnArgLeuAlaHisAlaLeuAsnAspMetIleLysGluPheIleSerMetGlySerLeuValAlaLeuIleAlaThrSerGlnSerGlnGlnSerLeuHisProLeuLeuValSerAlaGlnGlyValHisIlePheGlnCysValGlnHisIleGlnProProAsnGlnGluGlnArgCysGluIleLeuCysAsnValIleLysAsnLysLeuAspCysAspIleAsnLysPheThrAspLeuAspLeuGlnHisValAlaLysGluThrGlyGlyPheValAlaArgAspPheThrValLeuValAspArgAlaIleHisSerArgLeuSerArgGlnSerIleSerThrArgGluLysLeuValLeuThrThrLeuAspPheGlnLysAlaLeuArgGlyPheLeuProAlaSerLeuArgSerValAsnLeuHisLysProArgAspLeuGlyTrpAspLysIleGlyGlyLeuHisGluValArgGlnIleLeuMetAspThrIleGlnLeuProAlaLysTyrProGluLeuPheAlaAsnLeuProIleArgGlnArgThrGlyIleLeuLeuTyrGlyProProGlyThrGlyLysThrLeuLeuAlaGlyValIleAlaArgGluSerArgMetAsnPheIleSerValLysGlyProGluLeuLeuSerLysTyrIleGlyAlaSerGluGlnAlaValArgAspIlePheIleArgAlaGlnAlaAlaLysProCysIleLeuPhePheAspGluPheGluSerIleAlaProArgArgGlyHisAspAsnThrGlyValThrAspArgValValAsnGlnLeuLeuThrGlnLeuAspGlyValGluGlyLeuGlnGlyValTyrValLeuAlaAlaThrSerArgProAspLeuIleAspProAlaLeuLeuArgProGlyArgLeuAspLysCysValTyrCysProProProAspGlnValSerArgLeuGluIleLeuAsnValLeuSerAspSerLeuProLeuAlaAspAspValAspLeuGlnHisValAlaSerValThrAspSerPheThrGlyAlaAspLeuLysAlaLeuLeuTyrAsnAlaGlnLeuGluAlaLeuHisGlyMetLeuLeuSerSerGlyLeuGlnAspGlySerSerSerSerAspSerAspLeuSerLeuSerSerMetValPheLeuAsnHisSerSerGlySerAspAspSerAlaGlyAspGlyGluCysGlyLeuAspGlnSerLeuValSerLeuGluMetSerGluIleLeuProAspGluSerLysPheAsnMetTyrArgLeuTyrPheGlySerSerTyrGluSerGluLeuGlyAsnGlyThrSerSerAspLeuSerSerGlnCysLeuSerAlaProSerSerMetThrGlnAspLeuProGlyValProGlyLysAspGlnLeuPheSerGlnProProValLeuArgThrAlaSerGlnGluGlyCysGlnGluLeuThrGlnGluGlnArgAspGlnLeuArgAlaAspIleSerIleIleLysGlyArgTyrArgSerGlnSerGlyGluAspGluSerMetAsnGlnProGlyProIleLysThrArgLeuAlaIleSerGlnSerHisLeuMetThrAlaLeuGlyHisThrArgProSerIleSerGluAspAspTrpLysAsnPheAlaGluLeuTyrGluSerPheGlnAsnProLysArgArgLysAsnGlnSerGlyThrMetPheArgProGlyGlnLysValThrLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681862"
    }
  ],
  "type": "nucleotide"
}