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        "hgvsWellDefined": "ENSP00000507276.1:p.Ser54_Met556delinsGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828997"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 159,
          "endIntronDirection": "-",
          "endIntronOffset": 2228,
          "referenceAllele": "C",
          "start": 159,
          "startIntronDirection": "-",
          "startIntronOffset": 2229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
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        "ENST00000684129.1:c.-694-2229C>G"
      ],
      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS829087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 584,
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          "start": 583
        }
      ],
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      "hgvs": [
        "ENST00000684209.1:n.584C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829166"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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          "start": 549
        }
      ],
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      ],
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        "hgvsWellDefined": "ENSP00000507740.1:p.Ser115_Glu374delinsGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnGluGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829252"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 505,
          "referenceAllele": "C",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
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      "hgvs": [
        "ENST00000684505.1:c.344C>G"
      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829459"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 535,
          "referenceAllele": "C",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684552.1:c.344C>G"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000506899.1:p.Ser115_Glu374delinsGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnGluGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829505"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2072,
          "referenceAllele": "C",
          "start": 2071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684611.1:n.2072C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829563"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 535,
          "referenceAllele": "C",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684622.1:c.344C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507546.1:p.Ser115Ter",
        "hgvsWellDefined": "ENSP00000507546.1:p.Ser115_Met618delinsGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrTrpGlySerTrpAsnLeuSerProValAsnGluArgMetThrValAsnLysGlyGlyLeuArgGlyCysValGluLeuLysHisSerValSerSerThrLeuAspSerGluThrThrGlnLeuAsnThrAlaValProProPheIleMetTyrMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829574"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 913,
          "referenceAllele": "C",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684627.1:c.161C>G"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000507471.1:p.Ser54_Met556delinsGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829579"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 535,
          "referenceAllele": "C",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684641.1:c.344C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507642.1:p.Ser115Ter",
        "hgvsWellDefined": "ENSP00000507642.1:p.Ser115_Met522delinsGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829592"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 535,
          "referenceAllele": "C",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684675.1:c.344C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506934.1:p.Ser115Ter",
        "hgvsWellDefined": "ENSP00000506934.1:p.Ser115_Tyr397delinsGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerGluArgGluArgMetGlnSerLysTrpLeuProPheSerLeuTyrGlnAsnSerProPheLeuValValTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829626"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 413,
          "referenceAllele": "C",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684749.1:n.413C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829699"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 505,
          "referenceAllele": "C",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000511912.6:c.344C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426638.1:p.Ser115Ter",
        "hgvsWellDefined": "ENSP00000426638.1:p.Ser115_Met617delinsGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758258",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000511912.6:c.344C>G"
          },
          "RefSeq": {
            "hgvs": "NM_004453.4:c.344C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000426638.1:p.Ser115Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004444.2:p.Ser115Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 321,
          "referenceAllele": "C",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000307738.5:c.203C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303552.5:p.Ser68Ter",
        "hgvsWellDefined": "ENSP00000303552.5:p.Ser68_Met570delinsGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255936"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 529,
          "referenceAllele": "C",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000436096.2:n.529C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS293811"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 86,
          "endIntronDirection": "+",
          "endIntronOffset": 9873,
          "referenceAllele": "C",
          "start": 86,
          "startIntronDirection": "+",
          "startIntronOffset": 9872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000506422.1:n.86+9873C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337962"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 184,
          "endIntronDirection": "-",
          "endIntronOffset": 2228,
          "referenceAllele": "C",
          "start": 184,
          "startIntronDirection": "-",
          "startIntronOffset": 2229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000507475.5:c.-90-2229C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422735.1:n.-90-2229C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338754"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 676,
          "referenceAllele": "C",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000511912.5:c.344C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426638.1:p.Ser115Ter",
        "hgvsWellDefined": "ENSP00000426638.1:p.Ser115_Met617delinsGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342075"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 422,
          "referenceAllele": "C",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000514148.1:n.422C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573192971",
      "coordinates": [
        {
          "allele": "G",
          "end": 559,
          "referenceAllele": "C",
          "start": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281737.1:c.203C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268666.1:p.Ser68Ter",
        "hgvsWellDefined": "NP_001268666.1:p.Ser68_Met570delinsGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021701"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826594212",
      "coordinates": [
        {
          "allele": "G",
          "end": 256,
          "referenceAllele": "C",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281738.1:c.161C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268667.1:p.Ser54Ter",
        "hgvsWellDefined": "NP_001268667.1:p.Ser54_Met556delinsGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021702"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829519054",
      "coordinates": [
        {
          "allele": "G",
          "end": 700,
          "referenceAllele": "C",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_004453.3:c.344C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004444.2:p.Ser115Ter",
        "hgvsWellDefined": "NP_004444.2:p.Ser115_Met617delinsGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029615"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 376,
          "referenceAllele": "C",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "XM_024453935.1:c.161C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309703.1:p.Ser54Ter",
        "hgvsWellDefined": "XP_024309703.1:p.Ser54_Met556delinsGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829519054",
      "coordinates": [
        {
          "allele": "G",
          "end": 505,
          "referenceAllele": "C",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_004453.4:c.344C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004444.2:p.Ser115Ter",
        "hgvsWellDefined": "NP_004444.2:p.Ser115_Met617delinsGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696142",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000511912.6:c.344C>G"
          },
          "RefSeq": {
            "hgvs": "NM_004453.4:c.344C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000426638.1:p.Ser115Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004444.2:p.Ser115Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573192971",
      "coordinates": [
        {
          "allele": "G",
          "end": 364,
          "referenceAllele": "C",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281737.2:c.203C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268666.1:p.Ser68Ter",
        "hgvsWellDefined": "NP_001268666.1:p.Ser68_Met570delinsGlyAlaCysLeuAspProGlyAlaPheLysGluLeuPheProAspTrpLysGluLysGlyAlaProLeuAsnThrProValThrGluAspArgPheGlyIleLeuThrGluLysTyrArgIleProValProIleLeuProGlyLeuProMetAsnAsnHisGlyAsnTyrIleValArgLeuGlyHisLeuValSerTrpMetGlyGluGlnAlaGluAlaLeuGlyValGluValTyrProGlyTyrAlaAlaAlaGluValLeuPheHisAspAspGlySerValLysGlyIleAlaThrAsnAspValGlyIleGlnLysAspGlyAlaProLysAlaThrPheGluArgGlyLeuGluLeuHisAlaLysValThrIlePheAlaGluGlyCysHisGlyHisLeuAlaLysGlnLeuTyrLysLysPheAspLeuArgAlaAsnCysGluProGlnThrTyrGlyIleGlyLeuLysGluLeuTrpValIleAspGluLysAsnTrpLysProGlyArgValAspHisThrValGlyTrpProLeuAspArgHisThrTyrGlyGlySerPheLeuTyrHisLeuAsnGluGlyGluProLeuValAlaLeuGlyLeuValValGlyLeuAspTyrGlnAsnProTyrLeuSerProPheArgGluPheGlnArgTrpLysHisHisProSerIleArgProThrLeuGluGlyGlyLysArgIleAlaTyrGlyAlaArgAlaLeuAsnGluGlyGlyPheGlnSerIleProLysLeuThrPheProGlyGlyLeuLeuIleGlyCysSerProGlyPheMetAsnValProLysIleLysGlyThrHisThrAlaMetLysSerGlyIleLeuAlaAlaGluSerIlePheAsnGlnLeuThrSerGluAsnLeuGlnSerLysThrIleGlyLeuHisValThrGluTyrGluAspAsnLeuLysAsnSerTrpValTrpLysGluLeuTyrSerValArgAsnIleArgProSerCysHisGlyValLeuGlyValTyrGlyGlyMetIleTyrThrGlyIlePheTyrTrpIleLeuArgGlyMetGluProTrpThrLeuLysHisLysGlySerAspPheGluArgLeuLysProAlaLysAspCysThrProIleGluTyrProLysProAspGlyGlnIleSerPheAspLeuLeuSerSerValAlaLeuSerGlyThrAsnHisGluHisAspGlnProAlaHisLeuThrLeuArgAspAspSerIleProValAsnArgAsnLeuSerIleTyrAspGlyProGluGlnArgPheCysProAlaGlyValTyrGluPheValProValGluGlnGlyAspGlyPheArgLeuGlnIleAsnAlaGlnAsnCysValHisCysLysThrCysAspIleLysAspProSerGlnAsnIleAsnTrpValValProGluGlyGlyGlyGlyProAlaTyrAsnGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715722"
    }
  ],
  "type": "nucleotide"
}