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        "hgvsWellDefined": "NP_000009.1:p.Glu115_Phe655delinsValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006083"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139674264",
      "coordinates": [
        {
          "allele": "T",
          "end": 431,
          "referenceAllele": "G",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001033859.2:c.277G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001029031.1:p.Glu93Ter",
        "hgvsWellDefined": "NP_001029031.1:p.Glu93_Phe633delinsValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009170"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826513681",
      "coordinates": [
        {
          "allele": "T",
          "end": 433,
          "referenceAllele": "G",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270447.1:c.412G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257376.1:p.Glu138Ter",
        "hgvsWellDefined": "NP_001257376.1:p.Glu138_Phe678delinsValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020295"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826515196",
      "coordinates": [
        {
          "allele": "T",
          "end": 572,
          "referenceAllele": "G",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270448.1:c.115G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257377.1:p.Glu39Ter",
        "hgvsWellDefined": "NP_001257377.1:p.Glu39_Phe579delinsValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020296"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "referenceAllele": "G",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_006721516.2:c.343G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721579.2:p.Glu115Ter",
        "hgvsWellDefined": "XP_006721579.2:p.Glu115_Phe662delinsValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValSerGluGluAlaGlyArgGluCysLeuSerArgArgGlyProGlyProGlySerGlnProAlaGlnIleTyrPheHisLeuLeuLeuProAlaArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074100"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "referenceAllele": "G",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523829.1:c.343G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522131.1:p.Glu115Ter",
        "hgvsWellDefined": "XP_011522131.1:p.Glu115_Phe628delinsValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAlaGlyArgAlaGlyGlnArgProGluSerGlnArgThrCysProProGlyValGluSerGluTrpArgAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValSerGluGluAlaGlyArgGluCysLeuSerArgArgGlyProGlyProGlySerGlnProAlaGlnIleTyrPheHisLeuLeuLeuProAlaArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090962"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "referenceAllele": "G",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523830.1:c.343G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522132.1:p.Glu115Ter",
        "hgvsWellDefined": "XP_011522132.1:p.Glu115_Phe621delinsValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAlaGlyArgAlaGlyGlnArgProGluSerGlnArgThrCysProProGlyValGluSerGluTrpArgAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "referenceAllele": "G",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934021.1:n.450G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129466"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "referenceAllele": "G",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934022.1:n.450G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129467"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "referenceAllele": "G",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934023.1:n.450G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 402,
          "referenceAllele": "G",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_006721516.3:c.343G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721579.2:p.Glu115Ter",
        "hgvsWellDefined": "XP_006721579.2:p.Glu115_Phe662delinsValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValSerGluGluAlaGlyArgGluCysLeuSerArgArgGlyProGlyProGlySerGlnProAlaGlnIleTyrPheHisLeuLeuLeuProAlaArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540308"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 402,
          "referenceAllele": "G",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523829.2:c.343G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522131.1:p.Glu115Ter",
        "hgvsWellDefined": "XP_011522131.1:p.Glu115_Phe628delinsValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAlaGlyArgAlaGlyGlnArgProGluSerGlnArgThrCysProProGlyValGluSerGluTrpArgAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValSerGluGluAlaGlyArgGluCysLeuSerArgArgGlyProGlyProGlySerGlnProAlaGlnIleTyrPheHisLeuLeuLeuProAlaArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 402,
          "referenceAllele": "G",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523830.2:c.343G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522132.1:p.Glu115Ter",
        "hgvsWellDefined": "XP_011522132.1:p.Glu115_Phe621delinsValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAlaGlyArgAlaGlyGlnArgProGluSerGlnArgThrCysProProGlyValGluSerGluTrpArgAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 402,
          "referenceAllele": "G",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_024450741.1:c.343G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306509.1:p.Glu115Ter",
        "hgvsWellDefined": "XP_024306509.1:p.Glu115_Phe651delinsValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAlaGlyArgAlaGlyGlnArgProGluSerGlnArgThrCysProProGlyValGluSerGluTrpArgAlaGlyLysTrpProGlyValGlnGluSerLeuHisGlnGlyLeuGlnProMetAlaProLeuSerProAlaLeuSerProSerLeuLysAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584272"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 402,
          "referenceAllele": "G",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934021.2:n.402G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610564"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 402,
          "referenceAllele": "G",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934022.2:n.402G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610565"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 402,
          "referenceAllele": "G",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934023.2:n.402G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825003645",
      "coordinates": [
        {
          "allele": "T",
          "end": 390,
          "referenceAllele": "G",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_000018.4:c.343G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000009.1:p.Glu115Ter",
        "hgvsWellDefined": "NP_000009.1:p.Glu115_Phe655delinsValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662284",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356839.10:c.343G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000018.4:c.343G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349297.5:p.Glu115Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000009.1:p.Glu115Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139674264",
      "coordinates": [
        {
          "allele": "T",
          "end": 324,
          "referenceAllele": "G",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001033859.3:c.277G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001029031.1:p.Glu93Ter",
        "hgvsWellDefined": "NP_001029031.1:p.Glu93_Phe633delinsValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711542"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826513681",
      "coordinates": [
        {
          "allele": "T",
          "end": 433,
          "referenceAllele": "G",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270447.2:c.412G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257376.1:p.Glu138Ter",
        "hgvsWellDefined": "NP_001257376.1:p.Glu138_Phe678delinsValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715163"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826515196",
      "coordinates": [
        {
          "allele": "T",
          "end": 465,
          "referenceAllele": "G",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270448.2:c.115G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257377.1:p.Glu39Ter",
        "hgvsWellDefined": "NP_001257377.1:p.Glu39_Phe579delinsValAsnAspProAlaLysAsnAspAlaLeuGluMetValGluGluThrThrTrpGlnGlyLeuLysGluLeuGlyAlaPheGlyLeuGlnValProSerGluLeuGlyGlyValGlyLeuCysAsnThrGlnTyrAlaArgLeuValGluIleValGlyMetHisAspLeuGlyValGlyIleThrLeuGlyAlaHisGlnSerIleGlyPheLysGlyIleLeuLeuPheGlyThrLysAlaGlnLysGluLysTyrLeuProLysLeuAlaSerGlyGluThrValAlaAlaPheCysLeuThrGluProSerSerGlySerAspAlaAlaSerIleArgThrSerAlaValProSerProCysGlyLysTyrTyrThrLeuAsnGlySerLysLeuTrpIleSerAsnGlyGlyLeuAlaAspIlePheThrValPheAlaLysThrProValThrAspProAlaThrGlyAlaValLysGluLysIleThrAlaPheValValGluArgGlyPheGlyGlyIleThrHisGlyProProGluLysLysMetGlyIleLysAlaSerAsnThrAlaGluValPhePheAspGlyValArgValProSerGluAsnValLeuGlyGluValGlySerGlyPheLysValAlaMetHisIleLeuAsnAsnGlyArgPheGlyMetAlaAlaAlaLeuAlaGlyThrMetArgGlyIleIleAlaLysAlaValAspHisAlaThrAsnArgThrGlnPheGlyGluLysIleHisAsnPheGlyLeuIleGlnGluLysLeuAlaArgMetValMetLeuGlnTyrValThrGluSerMetAlaTyrMetValSerAlaAsnMetAspGlnGlyAlaThrAspPheGlnIleGluAlaAlaIleSerLysIlePheGlySerGluAlaAlaTrpLysValThrAspGluCysIleGlnIleMetGlyGlyMetGlyPheMetLysGluProGlyValGluArgValLeuArgAspLeuArgIlePheArgIlePheGluGlyThrAsnAspIleLeuArgLeuPheValAlaLeuGlnGlyCysMetAspLysGlyLysGluLeuSerGlyLeuGlySerAlaLeuLysAsnProPheGlyAsnAlaGlyLeuLeuLeuGlyGluAlaGlyLysGlnLeuArgArgArgAlaGlyLeuGlySerGlyLeuSerLeuSerGlyLeuValHisProGluLeuSerArgSerGlyGluLeuAlaValArgAlaLeuGluGlnPheAlaThrValValGluAlaLysLeuIleLysHisLysLysGlyIleValAsnGluGlnPheLeuLeuGlnArgLeuAlaAspGlyAlaIleAspLeuTyrAlaMetValValValLeuSerArgAlaSerArgSerLeuSerGluGlyHisProThrAlaGlnHisGluLysMetLeuCysAspThrTrpCysIleGluAlaAlaAlaArgIleArgGluGlyMetAlaAlaLeuGlnSerAspProTrpGlnGlnGluLeuTyrArgAsnPheLysSerIleSerLysAlaLeuValGluArgGlyGlyValValThrSerAsnProLeuGlyPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715164"
    }
  ],
  "type": "nucleotide"
}