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        "maneStatus": "MANE Select",
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS268420"
    },
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      "@id": "http://reg.genome.network/allele/PA2825137614",
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      ],
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    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026944"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN008108",
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      "hgvs": [
        "XM_005262422.1:c.472C>T"
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      "proteinEffect": {
        "hgvs": "XP_005262479.1:p.Gln158Ter",
        "hgvsWellDefined": "XP_005262479.1:p.Gln158_Asp744delinsLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063448"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1125,
          "referenceAllele": "C",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531342.1:c.946C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529644.1:p.Gln316Ter",
        "hgvsWellDefined": "XP_011529644.1:p.Gln316_Asp902delinsLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1038,
          "referenceAllele": "C",
          "start": 1037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531343.1:c.946C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529645.1:p.Gln316Ter",
        "hgvsWellDefined": "XP_011529645.1:p.Gln316_Asp894delinsLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098379"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1017,
          "referenceAllele": "C",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531344.1:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529646.1:p.Gln267Ter",
        "hgvsWellDefined": "XP_011529646.1:p.Gln267_Asp853delinsLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098380"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1033,
          "referenceAllele": "C",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531345.1:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529647.1:p.Gln267Ter",
        "hgvsWellDefined": "XP_011529647.1:p.Gln267_Asp853delinsLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098381"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1040,
          "referenceAllele": "C",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531346.1:c.946C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529648.1:p.Gln316Ter",
        "hgvsWellDefined": "XP_011529648.1:p.Gln316_Arg832delinsLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleArgIleLeuCysAspGlnSerLeuArgSerTrpMetArgThrPheAspLeuPheProTyrProAlaLeuThrLysArgLysGlnGlyValAspAsnAsnAspLeuLysAlaTrpAspIleGluAlaThrAlaLeuValLeuPheSerPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580202333",
      "coordinates": [
        {
          "allele": "T",
          "end": 1131,
          "referenceAllele": "C",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_001318784.1:c.946C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305713.1:p.Gln316Ter",
        "hgvsWellDefined": "NP_001305713.1:p.Gln316_Asp902delinsLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 915,
          "referenceAllele": "C",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_005262422.2:c.472C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262479.1:p.Gln158Ter",
        "hgvsWellDefined": "XP_005262479.1:p.Gln158_Asp744delinsLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535480"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1021,
          "referenceAllele": "C",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531344.3:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529646.1:p.Gln267Ter",
        "hgvsWellDefined": "XP_011529646.1:p.Gln267_Asp853delinsLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550338"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1024,
          "referenceAllele": "C",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_011531345.3:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529647.1:p.Gln267Ter",
        "hgvsWellDefined": "XP_011529647.1:p.Gln267_Asp853delinsLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1039,
          "referenceAllele": "C",
          "start": 1038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "XM_017029554.1:c.943C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885043.1:p.Gln315Ter",
        "hgvsWellDefined": "XP_016885043.1:p.Gln315_Arg831delinsLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleArgIleLeuCysAspGlnSerLeuArgSerTrpMetArgThrPheAspLeuPheProTyrProAlaLeuThrLysArgLysGlnGlyValAspAsnAsnAspLeuLysAlaTrpAspIleGluAlaThrAlaLeuValLeuPheSerPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579074"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825137614",
      "coordinates": [
        {
          "allele": "T",
          "end": 1124,
          "referenceAllele": "C",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_000276.4:c.943C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000267.2:p.Gln315Ter",
        "hgvsWellDefined": "NP_000267.2:p.Gln315_Asp901delinsLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662380",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371113.9:c.943C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000276.4:c.943C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360154.4:p.Gln315Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000267.2:p.Gln315Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580202333",
      "coordinates": [
        {
          "allele": "T",
          "end": 1127,
          "referenceAllele": "C",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_001318784.2:c.946C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305713.1:p.Gln316Ter",
        "hgvsWellDefined": "NP_001305713.1:p.Gln316_Asp902delinsLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829331812",
      "coordinates": [
        {
          "allele": "T",
          "end": 1124,
          "referenceAllele": "C",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NM_001587.4:c.943C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001578.2:p.Gln315Ter",
        "hgvsWellDefined": "NP_001578.2:p.Gln315_Asp893delinsLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695324"
    }
  ],
  "type": "nucleotide"
}