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      "proteinEffect": {
        "hgvs": "NP_000807.2:p.Arg136Ter",
        "hgvsWellDefined": "NP_000807.2:p.Arg136_Leu467delinsLeuAsnSerAsnMetValGlyLysIleTrpIleProAspThrPhePheArgAsnSerLysLysAlaAspAlaHisTrpIleThrThrProAsnArgMetLeuArgIleTrpAsnAspGlyArgValLeuTyrThrLeuArgLeuThrIleAspAlaGluCysGlnLeuGlnLeuHisAsnPheProMetAspGluHisSerCysProLeuGluPheSerSerTyrGlyTyrProArgGluGluIleValTyrGlnTrpLysArgSerSerValGluValGlyAspThrArgSerTrpArgLeuTyrGlnPheSerPheValGlyLeuArgAsnThrThrGluValValLysThrThrSerGlyAspTyrValValMetSerValTyrPheAspLeuSerArgArgMetGlyTyrPheThrIleGlnThrTyrIleProCysThrLeuIleValValLeuSerTrpValSerPheTrpIleAsnLysAspAlaValProAlaArgThrSerLeuGlyIleThrThrValLeuThrMetThrThrLeuSerThrIleAlaArgLysSerLeuProLysValSerTyrValThrAlaMetAspLeuPheValSerValCysPheIlePheValPheSerAlaLeuValGluTyrGlyThrLeuHisTyrPheValSerAsnArgLysProSerLysAspLysAspLysLysLysLysAsnProAlaProThrIleAspIleArgProArgSerAlaThrIleGlnMetAsnAsnAlaThrHisLeuGlnGluArgAspGluGluTyrGlyTyrGluCysLeuAspGlyLysAspCysAlaSerPhePheCysCysPheGluAspCysArgThrGlyAlaTrpArgHisGlyArgIleHisIleArgIleAlaLysMetAspSerTyrAlaArgIlePhePheProThrAlaPheCysLeuPheAsnLeuValTyrTrpValSerTyrLeuTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006845"
    },
    {
      "@id": "http://reg.genome.network/allele/PA314711",
      "coordinates": [
        {
          "allele": "T",
          "end": 764,
          "referenceAllele": "C",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004087",
      "geneNCBI_id": 2566,
      "geneSymbol": "GABRG2",
      "hgvs": [
        "NM_198903.2:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_944493.2:p.Arg136Ter",
        "hgvsWellDefined": "NP_944493.2:p.Arg136_Leu515delinsLeuAsnSerAsnMetValGlyLysIleTrpIleProAspThrPhePheArgAsnSerLysLysAlaAspAlaHisTrpIleThrThrProAsnArgMetLeuArgIleTrpAsnAspGlyArgValLeuTyrThrLeuArgLeuThrIleAspAlaGluCysGlnLeuGlnLeuHisAsnPheProMetAspGluHisSerCysProLeuGluPheSerSerTrpSerArgSerIleAlaGlnAlaGlyMetCysSerGlyValIleSerAlaHisTyrSerLeuArgPheTrpGlySerThrAspProProThrLeuAlaSerArgValAlaGlyIleSerAspGlyTyrProArgGluGluIleValTyrGlnTrpLysArgSerSerValGluValGlyAspThrArgSerTrpArgLeuTyrGlnPheSerPheValGlyLeuArgAsnThrThrGluValValLysThrThrSerGlyAspTyrValValMetSerValTyrPheAspLeuSerArgArgMetGlyTyrPheThrIleGlnThrTyrIleProCysThrLeuIleValValLeuSerTrpValSerPheTrpIleAsnLysAspAlaValProAlaArgThrSerLeuGlyIleThrThrValLeuThrMetThrThrLeuSerThrIleAlaArgLysSerLeuProLysValSerTyrValThrAlaMetAspLeuPheValSerValCysPheIlePheValPheSerAlaLeuValGluTyrGlyThrLeuHisTyrPheValSerAsnArgLysProSerLysAspLysAspLysLysLysLysAsnProLeuLeuArgMetPheSerPheLysAlaProThrIleAspIleArgProArgSerAlaThrIleGlnMetAsnAsnAlaThrHisLeuGlnGluArgAspGluGluTyrGlyTyrGluCysLeuAspGlyLysAspCysAlaSerPhePheCysCysPheGluAspCysArgThrGlyAlaTrpArgHisGlyArgIleHisIleArgIleAlaLysMetAspSerTyrAlaArgIlePhePheProThrAlaPheCysLeuPheAsnLeuValTyrTrpValSerTyrLeuTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044761"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916061492",
      "coordinates": [
        {
          "allele": "T",
          "end": 764,
          "referenceAllele": "C",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004087",
      "geneNCBI_id": 2566,
      "geneSymbol": "GABRG2",
      "hgvs": [
        "NM_198904.2:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_944494.1:p.Arg136Ter",
        "hgvsWellDefined": "NP_944494.1:p.Arg136_Leu475delinsLeuAsnSerAsnMetValGlyLysIleTrpIleProAspThrPhePheArgAsnSerLysLysAlaAspAlaHisTrpIleThrThrProAsnArgMetLeuArgIleTrpAsnAspGlyArgValLeuTyrThrLeuArgLeuThrIleAspAlaGluCysGlnLeuGlnLeuHisAsnPheProMetAspGluHisSerCysProLeuGluPheSerSerTyrGlyTyrProArgGluGluIleValTyrGlnTrpLysArgSerSerValGluValGlyAspThrArgSerTrpArgLeuTyrGlnPheSerPheValGlyLeuArgAsnThrThrGluValValLysThrThrSerGlyAspTyrValValMetSerValTyrPheAspLeuSerArgArgMetGlyTyrPheThrIleGlnThrTyrIleProCysThrLeuIleValValLeuSerTrpValSerPheTrpIleAsnLysAspAlaValProAlaArgThrSerLeuGlyIleThrThrValLeuThrMetThrThrLeuSerThrIleAlaArgLysSerLeuProLysValSerTyrValThrAlaMetAspLeuPheValSerValCysPheIlePheValPheSerAlaLeuValGluTyrGlyThrLeuHisTyrPheValSerAsnArgLysProSerLysAspLysAspLysLysLysLysAsnProLeuLeuArgMetPheSerPheLysAlaProThrIleAspIleArgProArgSerAlaThrIleGlnMetAsnAsnAlaThrHisLeuGlnGluArgAspGluGluTyrGlyTyrGluCysLeuAspGlyLysAspCysAlaSerPhePheCysCysPheGluAspCysArgThrGlyAlaTrpArgHisGlyArgIleHisIleArgIleAlaLysMetAspSerTyrAlaArgIlePhePheProThrAlaPheCysLeuPheAsnLeuValTyrTrpValSerTyrLeuTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828580672",
      "coordinates": [
        {
          "allele": "T",
          "end": 932,
          "referenceAllele": "C",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004087",
      "geneNCBI_id": 2566,
      "geneSymbol": "GABRG2",
      "hgvs": [
        "NM_001375339.1:c.397C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362268.1:p.Arg133Ter",
        "hgvsWellDefined": "NP_001362268.1:p.Arg133_Leu472delinsLeuAsnSerAsnMetValGlyLysIleTrpIleProAspThrPhePheArgAsnSerLysLysAlaAspAlaHisTrpIleThrThrProAsnArgMetLeuArgIleTrpAsnAspGlyArgValLeuTyrThrLeuArgLeuThrIleAspAlaGluCysGlnLeuGlnLeuHisAsnPheProMetAspGluHisSerCysProLeuGluPheSerSerTyrGlyTyrProArgGluGluIleValTyrGlnTrpLysArgSerSerValGluValGlyAspThrArgSerTrpArgLeuTyrGlnPheSerPheValGlyLeuArgAsnThrThrGluValValLysThrThrSerGlyAspTyrValValMetSerValTyrPheAspLeuSerArgArgMetGlyTyrPheThrIleGlnThrTyrIleProCysThrLeuIleValValLeuSerTrpValSerPheTrpIleAsnLysAspAlaValProAlaArgThrSerLeuGlyIleThrThrValLeuThrMetThrThrLeuSerThrIleAlaArgLysSerLeuProLysValSerTyrValThrAlaMetAspLeuPheValSerValCysPheIlePheValPheSerAlaLeuValGluTyrGlyThrLeuHisTyrPheValSerAsnArgLysProSerLysAspLysAspLysLysLysLysAsnProLeuLeuArgMetPheSerPheLysAlaProThrIleAspIleArgProArgSerAlaThrIleGlnMetAsnAsnAlaThrHisLeuGlnGluArgAspGluGluTyrGlyTyrGluCysLeuAspGlyLysAspCysAlaSerPhePheCysCysPheGluAspCysArgThrGlyAlaTrpArgHisGlyArgIleHisIleArgIleAlaLysMetAspSerTyrAlaArgIlePhePheProThrAlaPheCysLeuPheAsnLeuValTyrTrpValSerTyrLeuTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693481"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828581072",
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "C",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004087",
      "geneNCBI_id": 2566,
      "geneSymbol": "GABRG2",
      "hgvs": [
        "NM_001375340.1:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362269.1:p.Arg136Ter",
        "hgvsWellDefined": "NP_001362269.1:p.Arg136_His319delinsLeuAsnSerAsnMetValGlyLysIleTrpIleProAspThrPhePheArgAsnSerLysLysAlaAspAlaHisTrpIleThrThrProAsnArgMetLeuArgIleTrpAsnAspGlyArgValLeuTyrThrLeuArgLeuThrIleAspAlaGluCysGlnLeuGlnLeuHisAsnPheProMetAspGluHisSerCysProLeuGluPheSerSerTyrGlyTyrProArgGluGluIleValTyrGlnTrpLysArgSerSerValGluValGlyAspThrArgSerTrpArgLeuTyrGlnPheSerPheValGlyLeuArgAsnThrThrGluValValLysThrThrSerGlyAspTyrValValMetSerValTyrPheAspLeuSerArgArgMetGlyTyrPheThrIleGlnThrTyrIleProCysThrLeuIleValValLeuSerTrpValSerPheTrpIleAsnLysAspAlaValProAlaArgThrSerLeuAlaSerSerAspValPheLeuGlnGlyProTyrHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693482"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828581323",
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "C",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004087",
      "geneNCBI_id": 2566,
      "geneSymbol": "GABRG2",
      "hgvs": [
        "NM_001375341.1:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362270.1:p.Arg136Ter",
        "hgvsWellDefined": "NP_001362270.1:p.Arg136_Leu474delinsLeuAsnSerAsnMetValGlyLysIleTrpIleProAspThrPhePheArgAsnSerLysLysAlaAspAlaHisTrpIleThrThrProAsnArgMetLeuArgIleTrpAsnAspGlyArgValLeuTyrThrLeuArgLeuThrIleAspAlaGluCysGlnLeuGlnLeuHisAsnPheProMetAspGluHisSerCysProLeuGluPheSerSerTyrGlyTyrProArgGluGluIleValTyrGlnTrpLysArgSerSerValGluValGlyAspThrArgSerTrpArgLeuTyrGlnPheSerPheValGlyLeuArgAsnThrThrGluValValLysThrThrSerAspTyrValValMetSerValTyrPheAspLeuSerArgArgMetGlyTyrPheThrIleGlnThrTyrIleProCysThrLeuIleValValLeuSerTrpValSerPheTrpIleAsnLysAspAlaValProAlaArgThrSerLeuGlyIleThrThrValLeuThrMetThrThrLeuSerThrIleAlaArgLysSerLeuProLysValSerTyrValThrAlaMetAspLeuPheValSerValCysPheIlePheValPheSerAlaLeuValGluTyrGlyThrLeuHisTyrPheValSerAsnArgLysProSerLysAspLysAspLysLysLysLysAsnProLeuLeuArgMetPheSerPheLysAlaProThrIleAspIleArgProArgSerAlaThrIleGlnMetAsnAsnAlaThrHisLeuGlnGluArgAspGluGluTyrGlyTyrGluCysLeuAspGlyLysAspCysAlaSerPhePheCysCysPheGluAspCysArgThrGlyAlaTrpArgHisGlyArgIleHisIleArgIleAlaLysMetAspSerTyrAlaArgIlePhePheProThrAlaPheCysLeuPheAsnLeuValTyrTrpValSerTyrLeuTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693483"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828581723",
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "C",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004087",
      "geneNCBI_id": 2566,
      "geneSymbol": "GABRG2",
      "hgvs": [
        "NM_001375342.1:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362271.1:p.Arg136Ter",
        "hgvsWellDefined": "NP_001362271.1:p.Arg136_Leu466delinsLeuAsnSerAsnMetValGlyLysIleTrpIleProAspThrPhePheArgAsnSerLysLysAlaAspAlaHisTrpIleThrThrProAsnArgMetLeuArgIleTrpAsnAspGlyArgValLeuTyrThrLeuArgLeuThrIleAspAlaGluCysGlnLeuGlnLeuHisAsnPheProMetAspGluHisSerCysProLeuGluPheSerSerTyrGlyTyrProArgGluGluIleValTyrGlnTrpLysArgSerSerValGluValGlyAspThrArgSerTrpArgLeuTyrGlnPheSerPheValGlyLeuArgAsnThrThrGluValValLysThrThrSerAspTyrValValMetSerValTyrPheAspLeuSerArgArgMetGlyTyrPheThrIleGlnThrTyrIleProCysThrLeuIleValValLeuSerTrpValSerPheTrpIleAsnLysAspAlaValProAlaArgThrSerLeuGlyIleThrThrValLeuThrMetThrThrLeuSerThrIleAlaArgLysSerLeuProLysValSerTyrValThrAlaMetAspLeuPheValSerValCysPheIlePheValPheSerAlaLeuValGluTyrGlyThrLeuHisTyrPheValSerAsnArgLysProSerLysAspLysAspLysLysLysLysAsnProAlaProThrIleAspIleArgProArgSerAlaThrIleGlnMetAsnAsnAlaThrHisLeuGlnGluArgAspGluGluTyrGlyTyrGluCysLeuAspGlyLysAspCysAlaSerPhePheCysCysPheGluAspCysArgThrGlyAlaTrpArgHisGlyArgIleHisIleArgIleAlaLysMetAspSerTyrAlaArgIlePhePheProThrAlaPheCysLeuPheAsnLeuValTyrTrpValSerTyrLeuTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693484"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828582121",
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "C",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004087",
      "geneNCBI_id": 2566,
      "geneSymbol": "GABRG2",
      "hgvs": [
        "NM_001375343.1:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362272.1:p.Arg136Ter",
        "hgvsWellDefined": "NP_001362272.1:p.Arg136_Leu507delinsLeuAsnSerAsnMetValGlyLysIleTrpIleProAspThrPhePheArgAsnSerLysLysAlaAspAlaHisTrpIleThrThrProAsnArgMetLeuArgIleTrpAsnAspGlyArgValLeuTyrThrLeuArgLeuThrIleAspAlaGluCysGlnLeuGlnLeuHisAsnPheProMetAspGluHisSerCysProLeuGluPheSerSerTrpSerArgSerIleAlaGlnAlaGlyMetCysSerGlyValIleSerAlaHisTyrSerLeuArgPheTrpGlySerThrAspProProThrLeuAlaSerArgValAlaGlyIleSerAspGlyTyrProArgGluGluIleValTyrGlnTrpLysArgSerSerValGluValGlyAspThrArgSerTrpArgLeuTyrGlnPheSerPheValGlyLeuArgAsnThrThrGluValValLysThrThrSerGlyAspTyrValValMetSerValTyrPheAspLeuSerArgArgMetGlyTyrPheThrIleGlnThrTyrIleProCysThrLeuIleValValLeuSerTrpValSerPheTrpIleAsnLysAspAlaValProAlaArgThrSerLeuGlyIleThrThrValLeuThrMetThrThrLeuSerThrIleAlaArgLysSerLeuProLysValSerTyrValThrAlaMetAspLeuPheValSerValCysPheIlePheValPheSerAlaLeuValGluTyrGlyThrLeuHisTyrPheValSerAsnArgLysProSerLysAspLysAspLysLysLysLysAsnProAlaProThrIleAspIleArgProArgSerAlaThrIleGlnMetAsnAsnAlaThrHisLeuGlnGluArgAspGluGluTyrGlyTyrGluCysLeuAspGlyLysAspCysAlaSerPhePheCysCysPheGluAspCysArgThrGlyAlaTrpArgHisGlyArgIleHisIleArgIleAlaLysMetAspSerTyrAlaArgIlePhePheProThrAlaPheCysLeuPheAsnLeuValTyrTrpValSerTyrLeuTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693485"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828582530",
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "C",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004087",
      "geneNCBI_id": 2566,
      "geneSymbol": "GABRG2",
      "hgvs": [
        "NM_001375344.1:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362273.1:p.Arg136Ter",
        "hgvsWellDefined": "NP_001362273.1:p.Arg136_Leu488delinsLeuAsnSerAsnMetValGlyLysIleTrpIleProAspThrPhePheArgAsnSerLysLysAlaAspAlaHisTrpIleThrThrProAsnArgMetLeuArgIleTrpAsnAspGlyArgValLeuTyrThrLeuArgLeuThrIleAspAlaGluCysGlnLeuGlnLeuHisAsnPheProMetAspGluHisSerCysProLeuGluPheSerSerTyrGlyTyrProArgGluGluIleValTyrGlnTrpLysArgSerSerValGluValGlyAspThrArgSerTrpArgLeuTyrGlnPheSerPheValGlyLeuArgAsnThrThrGluValValLysThrThrSerGluAspLysLeuHisGluIleLeuValAsnLeuThrLeuGlyAspTyrValValMetSerValTyrPheAspLeuSerArgArgMetGlyTyrPheThrIleGlnThrTyrIleProCysThrLeuIleValValLeuSerTrpValSerPheTrpIleAsnLysAspAlaValProAlaArgThrSerLeuGlyIleThrThrValLeuThrMetThrThrLeuSerThrIleAlaArgLysSerLeuProLysValSerTyrValThrAlaMetAspLeuPheValSerValCysPheIlePheValPheSerAlaLeuValGluTyrGlyThrLeuHisTyrPheValSerAsnArgLysProSerLysAspLysAspLysLysLysLysAsnProLeuLeuArgMetPheSerPheLysAlaProThrIleAspIleArgProArgSerAlaThrIleGlnMetAsnAsnAlaThrHisLeuGlnGluArgAspGluGluTyrGlyTyrGluCysLeuAspGlyLysAspCysAlaSerPhePheCysCysPheGluAspCysArgThrGlyAlaTrpArgHisGlyArgIleHisIleArgIleAlaLysMetAspSerTyrAlaArgIlePhePheProThrAlaPheCysLeuPheAsnLeuValTyrTrpValSerTyrLeuTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693486"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828582911",
      "coordinates": [
        {
          "allele": "T",
          "end": 520,
          "referenceAllele": "C",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004087",
      "geneNCBI_id": 2566,
      "geneSymbol": "GABRG2",
      "hgvs": [
        "NM_001375345.1:c.340C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362274.1:p.Arg114Ter",
        "hgvsWellDefined": "NP_001362274.1:p.Arg114_Leu445delinsLeuAsnSerAsnMetValGlyLysIleTrpIleProAspThrPhePheArgAsnSerLysLysAlaAspAlaHisTrpIleThrThrProAsnArgMetLeuArgIleTrpAsnAspGlyArgValLeuTyrThrLeuArgLeuThrIleAspAlaGluCysGlnLeuGlnLeuHisAsnPheProMetAspGluHisSerCysProLeuGluPheSerSerTyrGlyTyrProArgGluGluIleValTyrGlnTrpLysArgSerSerValGluValGlyAspThrArgSerTrpArgLeuTyrGlnPheSerPheValGlyLeuArgAsnThrThrGluValValLysThrThrSerGlyAspTyrValValMetSerValTyrPheAspLeuSerArgArgMetGlyTyrPheThrIleGlnThrTyrIleProCysThrLeuIleValValLeuSerTrpValSerPheTrpIleAsnLysAspAlaValProAlaArgThrSerLeuGlyIleThrThrValLeuThrMetThrThrLeuSerThrIleAlaArgLysSerLeuProLysValSerTyrValThrAlaMetAspLeuPheValSerValCysPheIlePheValPheSerAlaLeuValGluTyrGlyThrLeuHisTyrPheValSerAsnArgLysProSerLysAspLysAspLysLysLysLysAsnProAlaProThrIleAspIleArgProArgSerAlaThrIleGlnMetAsnAsnAlaThrHisLeuGlnGluArgAspGluGluTyrGlyTyrGluCysLeuAspGlyLysAspCysAlaSerPhePheCysCysPheGluAspCysArgThrGlyAlaTrpArgHisGlyArgIleHisIleArgIleAlaLysMetAspSerTyrAlaArgIlePhePheProThrAlaPheCysLeuPheAsnLeuValTyrTrpValSerTyrLeuTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693487"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828583275",
      "coordinates": [
        {
          "allele": "T",
          "end": 520,
          "referenceAllele": "C",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004087",
      "geneNCBI_id": 2566,
      "geneSymbol": "GABRG2",
      "hgvs": [
        "NM_001375346.1:c.340C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362275.1:p.Arg114Ter",
        "hgvsWellDefined": "NP_001362275.1:p.Arg114_Leu453delinsLeuAsnSerAsnMetValGlyLysIleTrpIleProAspThrPhePheArgAsnSerLysLysAlaAspAlaHisTrpIleThrThrProAsnArgMetLeuArgIleTrpAsnAspGlyArgValLeuTyrThrLeuArgLeuThrIleAspAlaGluCysGlnLeuGlnLeuHisAsnPheProMetAspGluHisSerCysProLeuGluPheSerSerTyrGlyTyrProArgGluGluIleValTyrGlnTrpLysArgSerSerValGluValGlyAspThrArgSerTrpArgLeuTyrGlnPheSerPheValGlyLeuArgAsnThrThrGluValValLysThrThrSerGlyAspTyrValValMetSerValTyrPheAspLeuSerArgArgMetGlyTyrPheThrIleGlnThrTyrIleProCysThrLeuIleValValLeuSerTrpValSerPheTrpIleAsnLysAspAlaValProAlaArgThrSerLeuGlyIleThrThrValLeuThrMetThrThrLeuSerThrIleAlaArgLysSerLeuProLysValSerTyrValThrAlaMetAspLeuPheValSerValCysPheIlePheValPheSerAlaLeuValGluTyrGlyThrLeuHisTyrPheValSerAsnArgLysProSerLysAspLysAspLysLysLysLysAsnProLeuLeuArgMetPheSerPheLysAlaProThrIleAspIleArgProArgSerAlaThrIleGlnMetAsnAsnAlaThrHisLeuGlnGluArgAspGluGluTyrGlyTyrGluCysLeuAspGlyLysAspCysAlaSerPhePheCysCysPheGluAspCysArgThrGlyAlaTrpArgHisGlyArgIleHisIleArgIleAlaLysMetAspSerTyrAlaArgIlePhePheProThrAlaPheCysLeuPheAsnLeuValTyrTrpValSerTyrLeuTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693488"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828583632",
      "coordinates": [
        {
          "allele": "T",
          "end": 476,
          "referenceAllele": "C",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004087",
      "geneNCBI_id": 2566,
      "geneSymbol": "GABRG2",
      "hgvs": [
        "NM_001375347.1:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362276.1:p.Arg107Ter",
        "hgvsWellDefined": "NP_001362276.1:p.Arg107_Leu446delinsLeuAsnSerAsnMetValGlyLysIleTrpIleProAspThrPhePheArgAsnSerLysLysAlaAspAlaHisTrpIleThrThrProAsnArgMetLeuArgIleTrpAsnAspGlyArgValLeuTyrThrLeuArgLeuThrIleAspAlaGluCysGlnLeuGlnLeuHisAsnPheProMetAspGluHisSerCysProLeuGluPheSerSerTyrGlyTyrProArgGluGluIleValTyrGlnTrpLysArgSerSerValGluValGlyAspThrArgSerTrpArgLeuTyrGlnPheSerPheValGlyLeuArgAsnThrThrGluValValLysThrThrSerGlyAspTyrValValMetSerValTyrPheAspLeuSerArgArgMetGlyTyrPheThrIleGlnThrTyrIleProCysThrLeuIleValValLeuSerTrpValSerPheTrpIleAsnLysAspAlaValProAlaArgThrSerLeuGlyIleThrThrValLeuThrMetThrThrLeuSerThrIleAlaArgLysSerLeuProLysValSerTyrValThrAlaMetAspLeuPheValSerValCysPheIlePheValPheSerAlaLeuValGluTyrGlyThrLeuHisTyrPheValSerAsnArgLysProSerLysAspLysAspLysLysLysLysAsnProLeuLeuArgMetPheSerPheLysAlaProThrIleAspIleArgProArgSerAlaThrIleGlnMetAsnAsnAlaThrHisLeuGlnGluArgAspGluGluTyrGlyTyrGluCysLeuAspGlyLysAspCysAlaSerPhePheCysCysPheGluAspCysArgThrGlyAlaTrpArgHisGlyArgIleHisIleArgIleAlaLysMetAspSerTyrAlaArgIlePhePheProThrAlaPheCysLeuPheAsnLeuValTyrTrpValSerTyrLeuTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693489"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 879,
          "referenceAllele": "C",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004087",
      "geneNCBI_id": 2566,
      "geneSymbol": "GABRG2",
      "hgvs": [
        "NM_001375348.1:c.-15C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362277.1:n.-15C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693490"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573073646",
      "coordinates": [
        {
          "allele": "T",
          "end": 1062,
          "referenceAllele": "C",
          "start": 1061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004087",
      "geneNCBI_id": 2566,
      "geneSymbol": "GABRG2",
      "hgvs": [
        "NM_001375349.1:c.121C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362278.1:p.Arg41Ter",
        "hgvsWellDefined": "NP_001362278.1:p.Arg41_Leu372delinsLeuAsnSerAsnMetValGlyLysIleTrpIleProAspThrPhePheArgAsnSerLysLysAlaAspAlaHisTrpIleThrThrProAsnArgMetLeuArgIleTrpAsnAspGlyArgValLeuTyrThrLeuArgLeuThrIleAspAlaGluCysGlnLeuGlnLeuHisAsnPheProMetAspGluHisSerCysProLeuGluPheSerSerTyrGlyTyrProArgGluGluIleValTyrGlnTrpLysArgSerSerValGluValGlyAspThrArgSerTrpArgLeuTyrGlnPheSerPheValGlyLeuArgAsnThrThrGluValValLysThrThrSerGlyAspTyrValValMetSerValTyrPheAspLeuSerArgArgMetGlyTyrPheThrIleGlnThrTyrIleProCysThrLeuIleValValLeuSerTrpValSerPheTrpIleAsnLysAspAlaValProAlaArgThrSerLeuGlyIleThrThrValLeuThrMetThrThrLeuSerThrIleAlaArgLysSerLeuProLysValSerTyrValThrAlaMetAspLeuPheValSerValCysPheIlePheValPheSerAlaLeuValGluTyrGlyThrLeuHisTyrPheValSerAsnArgLysProSerLysAspLysAspLysLysLysLysAsnProAlaProThrIleAspIleArgProArgSerAlaThrIleGlnMetAsnAsnAlaThrHisLeuGlnGluArgAspGluGluTyrGlyTyrGluCysLeuAspGlyLysAspCysAlaSerPhePheCysCysPheGluAspCysArgThrGlyAlaTrpArgHisGlyArgIleHisIleArgIleAlaLysMetAspSerTyrAlaArgIlePhePheProThrAlaPheCysLeuPheAsnLeuValTyrTrpValSerTyrLeuTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693491"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 879,
          "referenceAllele": "C",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004087",
      "geneNCBI_id": 2566,
      "geneSymbol": "GABRG2",
      "hgvs": [
        "NM_001375350.1:c.-15C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362279.1:n.-15C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693492"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916061492",
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "C",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004087",
      "geneNCBI_id": 2566,
      "geneSymbol": "GABRG2",
      "hgvs": [
        "NM_198904.3:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_944494.1:p.Arg136Ter",
        "hgvsWellDefined": "NP_944494.1:p.Arg136_Leu475delinsLeuAsnSerAsnMetValGlyLysIleTrpIleProAspThrPhePheArgAsnSerLysLysAlaAspAlaHisTrpIleThrThrProAsnArgMetLeuArgIleTrpAsnAspGlyArgValLeuTyrThrLeuArgLeuThrIleAspAlaGluCysGlnLeuGlnLeuHisAsnPheProMetAspGluHisSerCysProLeuGluPheSerSerTyrGlyTyrProArgGluGluIleValTyrGlnTrpLysArgSerSerValGluValGlyAspThrArgSerTrpArgLeuTyrGlnPheSerPheValGlyLeuArgAsnThrThrGluValValLysThrThrSerGlyAspTyrValValMetSerValTyrPheAspLeuSerArgArgMetGlyTyrPheThrIleGlnThrTyrIleProCysThrLeuIleValValLeuSerTrpValSerPheTrpIleAsnLysAspAlaValProAlaArgThrSerLeuGlyIleThrThrValLeuThrMetThrThrLeuSerThrIleAlaArgLysSerLeuProLysValSerTyrValThrAlaMetAspLeuPheValSerValCysPheIlePheValPheSerAlaLeuValGluTyrGlyThrLeuHisTyrPheValSerAsnArgLysProSerLysAspLysAspLysLysLysLysAsnProLeuLeuArgMetPheSerPheLysAlaProThrIleAspIleArgProArgSerAlaThrIleGlnMetAsnAsnAlaThrHisLeuGlnGluArgAspGluGluTyrGlyTyrGluCysLeuAspGlyLysAspCysAlaSerPhePheCysCysPheGluAspCysArgThrGlyAlaTrpArgHisGlyArgIleHisIleArgIleAlaLysMetAspSerTyrAlaArgIlePhePheProThrAlaPheCysLeuPheAsnLeuValTyrTrpValSerTyrLeuTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701418"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916061492",
      "coordinates": [
        {
          "allele": "T",
          "end": 633,
          "referenceAllele": "C",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004087",
      "geneNCBI_id": 2566,
      "geneSymbol": "GABRG2",
      "hgvs": [
        "NM_198904.4:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_944494.1:p.Arg136Ter",
        "hgvsWellDefined": "NP_944494.1:p.Arg136_Leu475delinsLeuAsnSerAsnMetValGlyLysIleTrpIleProAspThrPhePheArgAsnSerLysLysAlaAspAlaHisTrpIleThrThrProAsnArgMetLeuArgIleTrpAsnAspGlyArgValLeuTyrThrLeuArgLeuThrIleAspAlaGluCysGlnLeuGlnLeuHisAsnPheProMetAspGluHisSerCysProLeuGluPheSerSerTyrGlyTyrProArgGluGluIleValTyrGlnTrpLysArgSerSerValGluValGlyAspThrArgSerTrpArgLeuTyrGlnPheSerPheValGlyLeuArgAsnThrThrGluValValLysThrThrSerGlyAspTyrValValMetSerValTyrPheAspLeuSerArgArgMetGlyTyrPheThrIleGlnThrTyrIleProCysThrLeuIleValValLeuSerTrpValSerPheTrpIleAsnLysAspAlaValProAlaArgThrSerLeuGlyIleThrThrValLeuThrMetThrThrLeuSerThrIleAlaArgLysSerLeuProLysValSerTyrValThrAlaMetAspLeuPheValSerValCysPheIlePheValPheSerAlaLeuValGluTyrGlyThrLeuHisTyrPheValSerAsnArgLysProSerLysAspLysAspLysLysLysLysAsnProLeuLeuArgMetPheSerPheLysAlaProThrIleAspIleArgProArgSerAlaThrIleGlnMetAsnAsnAlaThrHisLeuGlnGluArgAspGluGluTyrGlyTyrGluCysLeuAspGlyLysAspCysAlaSerPhePheCysCysPheGluAspCysArgThrGlyAlaTrpArgHisGlyArgIleHisIleArgIleAlaLysMetAspSerTyrAlaArgIlePhePheProThrAlaPheCysLeuPheAsnLeuValTyrTrpValSerTyrLeuTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729940",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000639213.2:c.406C>T"
          },
          "RefSeq": {
            "hgvs": "NM_198904.4:c.406C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000491909.2:p.Arg136Ter"
          },
          "RefSeq": {
            "hgvs": "NP_944494.1:p.Arg136Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}