{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA339962137",
  "communityStandardTitle": [
    "NM_022356.4(P3H1):c.541C>T (p.Gln181Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=623126[alleleid]",
        "alleleId": 623126,
        "preferredName": "NM_022356.4(P3H1):c.541C>T (p.Gln181Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/635343",
        "RCV": [
          "RCV000790419"
        ],
        "variationId": 635343
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.43228071G>A?assembly=hg19",
        "id": "chr1:g.43228071G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.42762400G>A?assembly=hg38",
        "id": "chr1:g.42762400G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1570479611",
        "rs": 1570479611
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 42762400,
          "referenceAllele": "G",
          "start": 42762399
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      ],
      "hgvs": [
        "NC_000001.11:g.42762400G>A",
        "CM000663.2:g.42762400G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 43228071,
          "referenceAllele": "G",
          "start": 43228070
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      ],
      "hgvs": [
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        "CM000663.1:g.43228071G>A"
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 43000658,
          "referenceAllele": "G",
          "start": 43000657
        }
      ],
      "hgvs": [
        "NC_000001.9:g.43000658G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9685,
          "referenceAllele": "C",
          "start": 9684
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      ],
      "hgvs": [
        "NG_008123.1:g.9685C>T",
        "LRG_5:g.9685C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS000868"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 598,
          "referenceAllele": "C",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
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        "ENST00000296388.10:c.541C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000296388.5:p.Gln181_Leu736delinsAsnLeuAspTyrTyrGlnThrMetSerGlyValLysGluAlaAspPheLysAspLeuGluThrGlnProHisMetGlnGluPheArgLeuGlyValArgLeuTyrSerGluGluGlnProGlnGluAlaValProHisLeuGluAlaAlaLeuGlnGluTyrPheValAlaTyrGluGluCysArgAlaLeuCysGluGlyProTyrAspTyrAspGlyTyrAsnTyrLeuGluTyrAsnAlaAspLeuPheGlnAlaIleThrAspHisTyrIleGlnValLeuAsnCysLysGlnAsnCysValThrGluLeuAlaSerHisProSerArgGluLysProPheGluAspPheLeuProSerHisTyrAsnTyrLeuGlnPheAlaTyrTyrAsnIleGlyAsnTyrThrGlnAlaValGluCysAlaLysThrTyrLeuLeuPhePheProAsnAspGluValMetAsnGlnAsnLeuAlaTyrTyrAlaAlaMetLeuGlyGluGluHisThrArgSerIleGlyProArgGluSerAlaLysGluTyrArgGlnArgSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744408",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000296388.10:c.541C>T"
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          "RefSeq": {
            "hgvs": "NM_022356.4:c.541C>T"
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        },
        "protein": {
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            "hgvs": "ENSP00000296388.5:p.Gln181Ter"
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          "RefSeq": {
            "hgvs": "NP_071751.3:p.Gln181Ter"
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        }
      }
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    {
      "coordinates": [
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          "start": 581
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      ],
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      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "ENSP00000236040.4:p.Gln181Ter",
        "hgvsWellDefined": "ENSP00000236040.4:p.Gln181_Ser804delinsAsnLeuAspTyrTyrGlnThrMetSerGlyValLysGluAlaAspPheLysAspLeuGluThrGlnProHisMetGlnGluPheArgLeuGlyValArgLeuTyrSerGluGluGlnProGlnGluAlaValProHisLeuGluAlaAlaLeuGlnGluTyrPheValAlaTyrGluGluCysArgAlaLeuCysGluGlyProTyrAspTyrAspGlyTyrAsnTyrLeuGluTyrAsnAlaAspLeuPheGlnAlaIleThrAspHisTyrIleGlnValLeuAsnCysLysGlnAsnCysValThrGluLeuAlaSerHisProSerArgGluLysProPheGluAspPheLeuProSerHisTyrAsnTyrLeuGlnPheAlaTyrTyrAsnIleGlyAsnTyrThrGlnAlaValGluCysAlaLysThrTyrLeuLeuPhePheProAsnAspGluValMetAsnGlnAsnLeuAlaTyrTyrAlaAlaMetLeuGlyGluGluHisThrArgSerIleGlyProArgGluSerAlaLysGluTyrArgGlnArgSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGluSerSerTrpCysCysGlyAspProPheProGluArgProTrpPheAlaPheLeuPheProLysSerHisCysGlnTrpLeuArgHisGluArgSerThrTrpAspThrSerSerAsnAlaLeuSerLeuTrpSerHisCysLeuValLeuProGlyProAlaValAsnGlyIleGlnValGlyLysGluValLysThrGlySerAspAlaGluPheLeuValProSerLeuGlyProThrSerAlaValLeuPheGlnArgValGlyProAlaGlyLysGluMetSerLeuGlyProLeuArgAsnLeuProCysProLeuGlySerSerSerTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS248959"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "C",
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000296388.5:p.Gln181_Leu736delinsAsnLeuAspTyrTyrGlnThrMetSerGlyValLysGluAlaAspPheLysAspLeuGluThrGlnProHisMetGlnGluPheArgLeuGlyValArgLeuTyrSerGluGluGlnProGlnGluAlaValProHisLeuGluAlaAlaLeuGlnGluTyrPheValAlaTyrGluGluCysArgAlaLeuCysGluGlyProTyrAspTyrAspGlyTyrAsnTyrLeuGluTyrAsnAlaAspLeuPheGlnAlaIleThrAspHisTyrIleGlnValLeuAsnCysLysGlnAsnCysValThrGluLeuAlaSerHisProSerArgGluLysProPheGluAspPheLeuProSerHisTyrAsnTyrLeuGlnPheAlaTyrTyrAsnIleGlyAsnTyrThrGlnAlaValGluCysAlaLysThrTyrLeuLeuPhePheProAsnAspGluValMetAsnGlnAsnLeuAlaTyrTyrAlaAlaMetLeuGlyGluGluHisThrArgSerIleGlyProArgGluSerAlaLysGluTyrArgGlnArgSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 496,
          "endIntronDirection": "-",
          "endIntronOffset": 53,
          "referenceAllele": "C",
          "start": 496,
          "startIntronDirection": "-",
          "startIntronOffset": 54
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      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "ENSP00000361604.2:n.466-54C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000380245.3:p.Gln181_Arg697delinsAsnLeuAspTyrTyrGlnThrMetSerGlyValLysGluAlaAspPheLysAspLeuGluThrGlnProHisMetGlnGluPheArgLeuGlyValArgLeuTyrSerGluGluGlnProGlnGluAlaValProHisLeuGluAlaAlaLeuGlnGluTyrPheValAlaTyrGluGluCysArgAlaLeuCysGluGlyProTyrAspTyrAspGlyTyrAsnTyrLeuGluTyrAsnAlaAspLeuPheGlnAlaIleThrAspHisTyrIleGlnValLeuAsnCysLysGlnAsnCysValThrGluLeuAlaSerHisProSerArgGluLysProPheGluAspPheLeuProSerHisTyrAsnTyrLeuGlnPheAlaTyrTyrAsnIleGlyAsnTyrThrGlnAlaValGluCysAlaLysThrTyrLeuLeuPhePheProAsnAspGluValMetAsnGlnAsnLeuAlaTyrTyrAlaAlaMetLeuGlyGluGluHisThrArgSerIleGlyProArgGluSerAlaLysGluTyrArgGlnArgSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGlnGlyAlaGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277579"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN019316",
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      "referenceSequence": "http://reg.genome.network/refseq/RS304863"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "start": 3
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS307494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS330220"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "start": 591
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      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
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      "referenceSequence": "http://reg.genome.network/refseq/RS332482"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825929097",
      "coordinates": [
        {
          "allele": "T",
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      "gene": "http://reg.genome.network/gene/GN019316",
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      "hgvs": [
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        "hgvsWellDefined": "NP_001139761.1:p.Gln181_Arg697delinsAsnLeuAspTyrTyrGlnThrMetSerGlyValLysGluAlaAspPheLysAspLeuGluThrGlnProHisMetGlnGluPheArgLeuGlyValArgLeuTyrSerGluGluGlnProGlnGluAlaValProHisLeuGluAlaAlaLeuGlnGluTyrPheValAlaTyrGluGluCysArgAlaLeuCysGluGlyProTyrAspTyrAspGlyTyrAsnTyrLeuGluTyrAsnAlaAspLeuPheGlnAlaIleThrAspHisTyrIleGlnValLeuAsnCysLysGlnAsnCysValThrGluLeuAlaSerHisProSerArgGluLysProPheGluAspPheLeuProSerHisTyrAsnTyrLeuGlnPheAlaTyrTyrAsnIleGlyAsnTyrThrGlnAlaValGluCysAlaLysThrTyrLeuLeuPhePheProAsnAspGluValMetAsnGlnAsnLeuAlaTyrTyrAlaAlaMetLeuGlyGluGluHisThrArgSerIleGlyProArgGluSerAlaLysGluTyrArgGlnArgSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGlnGlyAlaGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013945"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826323508",
      "coordinates": [
        {
          "allele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN019316",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001230175.1:p.Gln181Ter",
        "hgvsWellDefined": "NP_001230175.1:p.Gln181_Ser804delinsAsnLeuAspTyrTyrGlnThrMetSerGlyValLysGluAlaAspPheLysAspLeuGluThrGlnProHisMetGlnGluPheArgLeuGlyValArgLeuTyrSerGluGluGlnProGlnGluAlaValProHisLeuGluAlaAlaLeuGlnGluTyrPheValAlaTyrGluGluCysArgAlaLeuCysGluGlyProTyrAspTyrAspGlyTyrAsnTyrLeuGluTyrAsnAlaAspLeuPheGlnAlaIleThrAspHisTyrIleGlnValLeuAsnCysLysGlnAsnCysValThrGluLeuAlaSerHisProSerArgGluLysProPheGluAspPheLeuProSerHisTyrAsnTyrLeuGlnPheAlaTyrTyrAsnIleGlyAsnTyrThrGlnAlaValGluCysAlaLysThrTyrLeuLeuPhePheProAsnAspGluValMetAsnGlnAsnLeuAlaTyrTyrAlaAlaMetLeuGlyGluGluHisThrArgSerIleGlyProArgGluSerAlaLysGluTyrArgGlnArgSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGluSerSerTrpCysCysGlyAspProPheProGluArgProTrpPheAlaPheLeuPheProLysSerHisCysGlnTrpLeuArgHisGluArgSerThrTrpAspThrSerSerAsnAlaLeuSerLeuTrpSerHisCysLeuValLeuProGlyProAlaValAsnGlyIleGlnValGlyLysGluValLysThrGlySerAspAlaGluPheLeuValProSerLeuGlyProThrSerAlaValLeuPheGlnArgValGlyProAlaGlyLysGluMetSerLeuGlyProLeuArgAsnLeuProCysProLeuGlySerSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916065669",
      "coordinates": [
        {
          "allele": "T",
          "end": 654,
          "referenceAllele": "C",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "NM_022356.3:c.541C>T",
        "LRG_5t1:c.541C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071751.3:p.Gln181Ter",
        "hgvsWellDefined": "NP_071751.3:p.Gln181_Leu736delinsAsnLeuAspTyrTyrGlnThrMetSerGlyValLysGluAlaAspPheLysAspLeuGluThrGlnProHisMetGlnGluPheArgLeuGlyValArgLeuTyrSerGluGluGlnProGlnGluAlaValProHisLeuGluAlaAlaLeuGlnGluTyrPheValAlaTyrGluGluCysArgAlaLeuCysGluGlyProTyrAspTyrAspGlyTyrAsnTyrLeuGluTyrAsnAlaAspLeuPheGlnAlaIleThrAspHisTyrIleGlnValLeuAsnCysLysGlnAsnCysValThrGluLeuAlaSerHisProSerArgGluLysProPheGluAspPheLeuProSerHisTyrAsnTyrLeuGlnPheAlaTyrTyrAsnIleGlyAsnTyrThrGlnAlaValGluCysAlaLysThrTyrLeuLeuPhePheProAsnAspGluValMetAsnGlnAsnLeuAlaTyrTyrAlaAlaMetLeuGlyGluGluHisThrArgSerIleGlyProArgGluSerAlaLysGluTyrArgGlnArgSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 45,
          "referenceAllele": "C",
          "start": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "XM_011541947.1:c.-490C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540249.1:n.-490C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 45,
          "referenceAllele": "C",
          "start": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "XM_011541949.1:c.-490C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540251.1:n.-490C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108883"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 598,
          "referenceAllele": "C",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "XR_946739.1:n.598C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 595,
          "referenceAllele": "C",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "XM_017002051.2:c.-490C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857540.1:n.-490C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 560,
          "referenceAllele": "C",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "XM_017002052.2:c.-490C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857541.1:n.-490C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558081"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 598,
          "referenceAllele": "C",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "XR_946739.2:n.598C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614447"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916065669",
      "coordinates": [
        {
          "allele": "T",
          "end": 598,
          "referenceAllele": "C",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "NM_022356.4:c.541C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071751.3:p.Gln181Ter",
        "hgvsWellDefined": "NP_071751.3:p.Gln181_Leu736delinsAsnLeuAspTyrTyrGlnThrMetSerGlyValLysGluAlaAspPheLysAspLeuGluThrGlnProHisMetGlnGluPheArgLeuGlyValArgLeuTyrSerGluGluGlnProGlnGluAlaValProHisLeuGluAlaAlaLeuGlnGluTyrPheValAlaTyrGluGluCysArgAlaLeuCysGluGlyProTyrAspTyrAspGlyTyrAsnTyrLeuGluTyrAsnAlaAspLeuPheGlnAlaIleThrAspHisTyrIleGlnValLeuAsnCysLysGlnAsnCysValThrGluLeuAlaSerHisProSerArgGluLysProPheGluAspPheLeuProSerHisTyrAsnTyrLeuGlnPheAlaTyrTyrAsnIleGlyAsnTyrThrGlnAlaValGluCysAlaLysThrTyrLeuLeuPhePheProAsnAspGluValMetAsnGlnAsnLeuAlaTyrTyrAlaAlaMetLeuGlyGluGluHisThrArgSerIleGlyProArgGluSerAlaLysGluTyrArgGlnArgSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgAspArgValGlnAlaAspAspLeuValLysMetLeuPheSerProGluGluMetAspLeuSerGlnGluGlnProLeuAspAlaGlnGlnGlyProProGluProAlaGlnGluSerLeuSerGlySerGluSerLysProLysAspGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698530",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296388.10:c.541C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022356.4:c.541C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296388.5:p.Gln181Ter"
          },
          "RefSeq": {
            "hgvs": "NP_071751.3:p.Gln181Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825929097",
      "coordinates": [
        {
          "allele": "T",
          "end": 598,
          "referenceAllele": "C",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "NM_001146289.2:c.541C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139761.1:p.Gln181Ter",
        "hgvsWellDefined": "NP_001139761.1:p.Gln181_Arg697delinsAsnLeuAspTyrTyrGlnThrMetSerGlyValLysGluAlaAspPheLysAspLeuGluThrGlnProHisMetGlnGluPheArgLeuGlyValArgLeuTyrSerGluGluGlnProGlnGluAlaValProHisLeuGluAlaAlaLeuGlnGluTyrPheValAlaTyrGluGluCysArgAlaLeuCysGluGlyProTyrAspTyrAspGlyTyrAsnTyrLeuGluTyrAsnAlaAspLeuPheGlnAlaIleThrAspHisTyrIleGlnValLeuAsnCysLysGlnAsnCysValThrGluLeuAlaSerHisProSerArgGluLysProPheGluAspPheLeuProSerHisTyrAsnTyrLeuGlnPheAlaTyrTyrAsnIleGlyAsnTyrThrGlnAlaValGluCysAlaLysThrTyrLeuLeuPhePheProAsnAspGluValMetAsnGlnAsnLeuAlaTyrTyrAlaAlaMetLeuGlyGluGluHisThrArgSerIleGlyProArgGluSerAlaLysGluTyrArgGlnArgSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGlnGlyAlaGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712912"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826323508",
      "coordinates": [
        {
          "allele": "T",
          "end": 598,
          "referenceAllele": "C",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "NM_001243246.2:c.541C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230175.1:p.Gln181Ter",
        "hgvsWellDefined": "NP_001230175.1:p.Gln181_Ser804delinsAsnLeuAspTyrTyrGlnThrMetSerGlyValLysGluAlaAspPheLysAspLeuGluThrGlnProHisMetGlnGluPheArgLeuGlyValArgLeuTyrSerGluGluGlnProGlnGluAlaValProHisLeuGluAlaAlaLeuGlnGluTyrPheValAlaTyrGluGluCysArgAlaLeuCysGluGlyProTyrAspTyrAspGlyTyrAsnTyrLeuGluTyrAsnAlaAspLeuPheGlnAlaIleThrAspHisTyrIleGlnValLeuAsnCysLysGlnAsnCysValThrGluLeuAlaSerHisProSerArgGluLysProPheGluAspPheLeuProSerHisTyrAsnTyrLeuGlnPheAlaTyrTyrAsnIleGlyAsnTyrThrGlnAlaValGluCysAlaLysThrTyrLeuLeuPhePheProAsnAspGluValMetAsnGlnAsnLeuAlaTyrTyrAlaAlaMetLeuGlyGluGluHisThrArgSerIleGlyProArgGluSerAlaLysGluTyrArgGlnArgSerLeuLeuGluLysGluLeuLeuPhePheAlaTyrAspValPheGlyIleProPheValAspProAspSerTrpThrProGluGluValIleProLysArgLeuGlnGluLysGlnLysSerGluArgGluThrAlaValArgIleSerGlnGluIleGlyAsnLeuMetLysGluIleGluThrLeuValGluGluLysThrLysGluSerLeuAspValSerArgLeuThrArgGluGlyGlyProLeuLeuTyrGluGlyIleSerLeuThrMetAsnSerLysLeuLeuAsnGlySerGlnArgValValMetAspGlyValIleSerAspHisGluCysGlnGluLeuGlnArgLeuThrAsnValAlaAlaThrSerGlyAspGlyTyrArgGlyGlnThrSerProHisThrProAsnGluLysPheTyrGlyValThrValPheLysAlaLeuLysLeuGlyGlnGluGlyLysValProLeuGlnSerAlaHisLeuTyrTyrAsnValThrGluLysValArgArgIleMetGluSerTyrPheArgLeuAspThrProLeuTyrPheSerTyrSerHisLeuValCysArgThrAlaIleGluGluValGlnAlaGluArgLysAspAspSerHisProValHisValAspAsnCysIleLeuAsnAlaGluThrLeuValCysValLysGluProProAlaTyrThrPheArgAspTyrSerAlaIleLeuTyrLeuAsnGlyAspPheAspGlyGlyAsnPheTyrPheThrGluLeuAspAlaLysThrValThrAlaGluValGlnProGlnCysGlyArgAlaValGlyPheSerSerGlyThrGluAsnProHisGlyValLysAlaValThrArgGlyGlnArgCysAlaIleAlaLeuTrpPheThrLeuAspProArgHisSerGluArgValArgAlaAlaArgAlaGlyGluSerSerTrpCysCysGlyAspProPheProGluArgProTrpPheAlaPheLeuPheProLysSerHisCysGlnTrpLeuArgHisGluArgSerThrTrpAspThrSerSerAsnAlaLeuSerLeuTrpSerHisCysLeuValLeuProGlyProAlaValAsnGlyIleGlnValGlyLysGluValLysThrGlySerAspAlaGluPheLeuValProSerLeuGlyProThrSerAlaValLeuPheGlnArgValGlyProAlaGlyLysGluMetSerLeuGlyProLeuArgAsnLeuProCysProLeuGlySerSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714457"
    }
  ],
  "type": "nucleotide"
}