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  "@id": "http://reg.genome.network/allele/CA16608135",
  "communityStandardTitle": [
    "NM_001199107.2(TBC1D24):c.121C>T (p.Gln41Ter)"
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        "preferredName": "NM_001199107.2(TBC1D24):c.121C>T (p.Gln41Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/391687",
        "RCV": [
          "RCV000436259",
          "RCV000697787"
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        "variationId": 391687
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS378154"
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      "referenceSequence": "http://reg.genome.network/refseq/RS379836"
    },
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        {
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      "proteinEffect": {
        "hgvs": "ENSP00000486121.1:p.Gln41Ter",
        "hgvsWellDefined": "ENSP00000486121.1:p.Gln41_Gln553delinsGlyTyrTrpAlaGlnSerHisAlaLeuArgGlyLysValTyrGlnArgLeuIleArgAspIleProCysArgThrValThrProAspAlaSerValTyrSerAspIleValGlyLysIleValGlyLysHisSerSerSerCysLeuProLeuProGluPheValAspAsnThrGlnValProSerTyrCysLeuAsnAlaArgGlyGluGlyAlaValArgLysIleLeuLeuCysLeuAlaAsnGlnPheProAspIleSerPheCysProAlaLeuProAlaValValAlaLeuLeuLeuHisTyrSerIleAspGluAlaGluCysPheGluLysAlaCysArgIleLeuAlaCysAsnAspProGlyArgArgLeuIleAspGlnSerPheLeuAlaPheGluSerSerCysMetThrPheGlyAspLeuValAsnLysTyrCysGlnAlaAlaHisLysLeuMetValAlaValSerGluAspValLeuGlnValTyrAlaAspTrpGlnArgTrpLeuPheGlyGluLeuProLeuCysTyrPheAlaArgValPheAspValPheLeuValGluGlyTyrLysValLeuTyrArgValAlaLeuAlaIleLeuLysPhePheHisLysValArgAlaGlyGlnProLeuGluSerAspSerValLysGlnAspIleArgThrPheValArgAspIleAlaLysThrValSerProGluLysLeuLeuGluLysAlaPheAlaIleArgLeuPheSerArgLysGluIleGlnLeuLeuGlnMetAlaAsnGluLysAlaLeuLysGlnLysGlyIleThrValLysGlnLysArgGlnPheValHisLeuAlaValHisAlaGluAsnPheArgSerGluIleValSerValArgGluMetArgAspIleTrpSerTrpValProGluArgPheAlaLeuCysGlnProLeuLeuLeuPheSerSerLeuGlnHisGlyTyrSerLeuAlaArgPheTyrPheGlnCysGluGlyHisGluProThrLeuLeuLeuIleLysThrThrGlnLysGluValCysGlyAlaTyrLeuSerThrAspTrpSerGluArgAsnLysPheGlyGlyLysLeuGlyPhePheGlyThrGlyGluCysPheValPheArgLeuGlnProGluValGlnArgTyrGluTrpValValIleLysHisProGluLeuThrLysProProProLeuMetAlaAlaGluProThrAlaProLeuSerHisSerAlaSerSerAspProAlaAspArgLeuSerProPheLeuAlaAlaArgHisPheAsnLeuProSerLysThrGluSerMetPheMetAlaGlyGlySerAspCysLeuIleValGlyGlyGlyGlyGlyGlnAlaLeuTyrIleAspGlyAspLeuAsnArgGlyArgThrSerHisCysAspThrPheAsnAsnGlnProLeuCysSerGluAsnPheLeuIleAlaAlaValGluAlaTrpGlyPheGlnAspProAspThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406865"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 315,
          "referenceAllele": "C",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "ENST00000630263.2:c.121C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486835.1:p.Gln41Ter",
        "hgvsWellDefined": "ENSP00000486835.1:p.Gln41_Ala339delinsGlyTyrTrpAlaGlnSerHisAlaLeuArgGlyLysValTyrGlnArgLeuIleArgAspIleProCysArgThrValThrProAspAlaSerValTyrSerAspIleValGlyLysIleValGlyLysHisSerSerSerCysLeuProLeuProGluPheValAspAsnThrGlnValProSerTyrCysLeuAsnAlaArgGlyGluGlyAlaValArgLysIleLeuLeuCysLeuAlaAsnGlnPheProAspIleSerPheCysProAlaLeuProAlaValValAlaLeuLeuLeuHisTyrSerIleAspGluAlaGluCysPheGluLysAlaCysArgIleLeuAlaCysAsnAspProGlyArgArgLeuIleAspGlnSerPheLeuAlaPheGluSerSerCysMetThrPheGlyAspLeuValAsnLysTyrCysGlnAlaAlaHisLysLeuMetValAlaValSerGluAspValLeuGlnValTyrAlaAspTrpGlnArgTrpLeuPheGlyGluLeuProLeuCysTyrPheAlaArgValPheAspValPheLeuValGluGlyTyrLysValLeuTyrArgValAlaLeuAlaIleLeuLysPhePheHisLysValArgAlaGlyGlnProLeuGluSerAspSerValLysGlnAspIleArgThrPheValArgAspIleAlaLysThrValSerProGluLysLeuLeuGluLysAlaPheAlaIleArgLeuPheSerArgLysGluIleGlnLeuLeuGlnMetAlaAsnGluLysAlaLeuLysGlnLysGlyIleThrValLysGlnLysSerLeuTyrThrTrpProSerMetGlnArgThrSerAlaArgArgSerSerAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407342"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645494332",
      "coordinates": [
        {
          "allele": "T",
          "end": 261,
          "referenceAllele": "C",
          "start": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "NM_001199107.1:c.121C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186036.1:p.Gln41Ter",
        "hgvsWellDefined": "NP_001186036.1:p.Gln41_Gln559delinsGlyTyrTrpAlaGlnSerHisAlaLeuArgGlyLysValTyrGlnArgLeuIleArgAspIleProCysArgThrValThrProAspAlaSerValTyrSerAspIleValGlyLysIleValGlyLysHisSerSerSerCysLeuProLeuProGluPheValAspAsnThrGlnValProSerTyrCysLeuAsnAlaArgGlyGluGlyAlaValArgLysIleLeuLeuCysLeuAlaAsnGlnPheProAspIleSerPheCysProAlaLeuProAlaValValAlaLeuLeuLeuHisTyrSerIleAspGluAlaGluCysPheGluLysAlaCysArgIleLeuAlaCysAsnAspProGlyArgArgLeuIleAspGlnSerPheLeuAlaPheGluSerSerCysMetThrPheGlyAspLeuValAsnLysTyrCysGlnAlaAlaHisLysLeuMetValAlaValSerGluAspValLeuGlnValTyrAlaAspTrpGlnArgTrpLeuPheGlyGluLeuProLeuCysTyrPheAlaArgValPheAspValPheLeuValGluGlyTyrLysValLeuTyrArgValAlaLeuAlaIleLeuLysPhePheHisLysValArgAlaGlyGlnProLeuGluSerAspSerValLysGlnAspIleArgThrPheValArgAspIleAlaLysThrValSerProGluLysLeuLeuGluLysAlaPheAlaIleArgLeuPheSerArgLysGluIleGlnLeuLeuGlnMetAlaAsnGluLysAlaLeuLysGlnLysGlyIleThrValLysGlnLysSerValSerLeuSerLysArgGlnPheValHisLeuAlaValHisAlaGluAsnPheArgSerGluIleValSerValArgGluMetArgAspIleTrpSerTrpValProGluArgPheAlaLeuCysGlnProLeuLeuLeuPheSerSerLeuGlnHisGlyTyrSerLeuAlaArgPheTyrPheGlnCysGluGlyHisGluProThrLeuLeuLeuIleLysThrThrGlnLysGluValCysGlyAlaTyrLeuSerThrAspTrpSerGluArgAsnLysPheGlyGlyLysLeuGlyPhePheGlyThrGlyGluCysPheValPheArgLeuGlnProGluValGlnArgTyrGluTrpValValIleLysHisProGluLeuThrLysProProProLeuMetAlaAlaGluProThrAlaProLeuSerHisSerAlaSerSerAspProAlaAspArgLeuSerProPheLeuAlaAlaArgHisPheAsnLeuProSerLysThrGluSerMetPheMetAlaGlyGlySerAspCysLeuIleValGlyGlyGlyGlyGlyGlnAlaLeuTyrIleAspGlyAspLeuAsnArgGlyArgThrSerHisCysAspThrPheAsnAsnGlnProLeuCysSerGluAsnPheLeuIleAlaAlaValGluAlaTrpGlyPheGlnAspProAspThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016986"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916076238",
      "coordinates": [
        {
          "allele": "T",
          "end": 261,
          "referenceAllele": "C",
          "start": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "NM_020705.2:c.121C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065756.1:p.Gln41Ter",
        "hgvsWellDefined": "NP_065756.1:p.Gln41_Gln553delinsGlyTyrTrpAlaGlnSerHisAlaLeuArgGlyLysValTyrGlnArgLeuIleArgAspIleProCysArgThrValThrProAspAlaSerValTyrSerAspIleValGlyLysIleValGlyLysHisSerSerSerCysLeuProLeuProGluPheValAspAsnThrGlnValProSerTyrCysLeuAsnAlaArgGlyGluGlyAlaValArgLysIleLeuLeuCysLeuAlaAsnGlnPheProAspIleSerPheCysProAlaLeuProAlaValValAlaLeuLeuLeuHisTyrSerIleAspGluAlaGluCysPheGluLysAlaCysArgIleLeuAlaCysAsnAspProGlyArgArgLeuIleAspGlnSerPheLeuAlaPheGluSerSerCysMetThrPheGlyAspLeuValAsnLysTyrCysGlnAlaAlaHisLysLeuMetValAlaValSerGluAspValLeuGlnValTyrAlaAspTrpGlnArgTrpLeuPheGlyGluLeuProLeuCysTyrPheAlaArgValPheAspValPheLeuValGluGlyTyrLysValLeuTyrArgValAlaLeuAlaIleLeuLysPhePheHisLysValArgAlaGlyGlnProLeuGluSerAspSerValLysGlnAspIleArgThrPheValArgAspIleAlaLysThrValSerProGluLysLeuLeuGluLysAlaPheAlaIleArgLeuPheSerArgLysGluIleGlnLeuLeuGlnMetAlaAsnGluLysAlaLeuLysGlnLysGlyIleThrValLysGlnLysArgGlnPheValHisLeuAlaValHisAlaGluAsnPheArgSerGluIleValSerValArgGluMetArgAspIleTrpSerTrpValProGluArgPheAlaLeuCysGlnProLeuLeuLeuPheSerSerLeuGlnHisGlyTyrSerLeuAlaArgPheTyrPheGlnCysGluGlyHisGluProThrLeuLeuLeuIleLysThrThrGlnLysGluValCysGlyAlaTyrLeuSerThrAspTrpSerGluArgAsnLysPheGlyGlyLysLeuGlyPhePheGlyThrGlyGluCysPheValPheArgLeuGlnProGluValGlnArgTyrGluTrpValValIleLysHisProGluLeuThrLysProProProLeuMetAlaAlaGluProThrAlaProLeuSerHisSerAlaSerSerAspProAlaAspArgLeuSerProPheLeuAlaAlaArgHisPheAsnLeuProSerLysThrGluSerMetPheMetAlaGlyGlySerAspCysLeuIleValGlyGlyGlyGlyGlyGlnAlaLeuTyrIleAspGlyAspLeuAsnArgGlyArgThrSerHisCysAspThrPheAsnAsnGlnProLeuCysSerGluAsnPheLeuIleAlaAlaValGluAlaTrpGlyPheGlnAspProAspThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 303,
          "referenceAllele": "C",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "XM_017023493.1:c.121C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878982.1:p.Gln41Ter",
        "hgvsWellDefined": "XP_016878982.1:p.Gln41_Gln559delinsGlyTyrTrpAlaGlnSerHisAlaLeuArgGlyLysValTyrGlnArgLeuIleArgAspIleProCysArgThrValThrProAspAlaSerValTyrSerAspIleValGlyLysIleValGlyLysHisSerSerSerCysLeuProLeuProGluPheValAspAsnThrGlnValProSerTyrCysLeuAsnAlaArgGlyGluGlyAlaValArgLysIleLeuLeuCysLeuAlaAsnGlnPheProAspIleSerPheCysProAlaLeuProAlaValValAlaLeuLeuLeuHisTyrSerIleAspGluAlaGluCysPheGluLysAlaCysArgIleLeuAlaCysAsnAspProGlyArgArgLeuIleAspGlnSerPheLeuAlaPheGluSerSerCysMetThrPheGlyAspLeuValAsnLysTyrCysGlnAlaAlaHisLysLeuMetValAlaValSerGluAspValLeuGlnValTyrAlaAspTrpGlnArgTrpLeuPheGlyGluLeuProLeuCysTyrPheAlaArgValPheAspValPheLeuValGluGlyTyrLysValLeuTyrArgValAlaLeuAlaIleLeuLysPhePheHisLysValArgAlaGlyGlnProLeuGluSerAspSerValLysGlnAspIleArgThrPheValArgAspIleAlaLysThrValSerProGluLysLeuLeuGluLysAlaPheAlaIleArgLeuPheSerArgLysGluIleGlnLeuLeuGlnMetAlaAsnGluLysAlaLeuLysGlnLysGlyIleThrValLysGlnLysSerValSerLeuSerLysArgGlnPheValHisLeuAlaValHisAlaGluAsnPheArgSerGluIleValSerValArgGluMetArgAspIleTrpSerTrpValProGluArgPheAlaLeuCysGlnProLeuLeuLeuPheSerSerLeuGlnHisGlyTyrSerLeuAlaArgPheTyrPheGlnCysGluGlyHisGluProThrLeuLeuLeuIleLysThrThrGlnLysGluValCysGlyAlaTyrLeuSerThrAspTrpSerGluArgAsnLysPheGlyGlyLysLeuGlyPhePheGlyThrGlyGluCysPheValPheArgLeuGlnProGluValGlnArgTyrGluTrpValValIleLysHisProGluLeuThrLysProProProLeuMetAlaAlaGluProThrAlaProLeuSerHisSerAlaSerSerAspProAlaAspArgLeuSerProPheLeuAlaAlaArgHisPheAsnLeuProSerLysThrGluSerMetPheMetAlaGlyGlySerAspCysLeuIleValGlyGlyGlyGlyGlyGlnAlaLeuTyrIleAspGlyAspLeuAsnArgGlyArgThrSerHisCysAspThrPheAsnAsnGlnProLeuCysSerGluAsnPheLeuIleAlaAlaValGluAlaTrpGlyPheGlnAspProAspThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574249"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 391,
          "referenceAllele": "C",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "XM_017023494.1:c.121C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878983.1:p.Gln41Ter",
        "hgvsWellDefined": "XP_016878983.1:p.Gln41_Gln553delinsGlyTyrTrpAlaGlnSerHisAlaLeuArgGlyLysValTyrGlnArgLeuIleArgAspIleProCysArgThrValThrProAspAlaSerValTyrSerAspIleValGlyLysIleValGlyLysHisSerSerSerCysLeuProLeuProGluPheValAspAsnThrGlnValProSerTyrCysLeuAsnAlaArgGlyGluGlyAlaValArgLysIleLeuLeuCysLeuAlaAsnGlnPheProAspIleSerPheCysProAlaLeuProAlaValValAlaLeuLeuLeuHisTyrSerIleAspGluAlaGluCysPheGluLysAlaCysArgIleLeuAlaCysAsnAspProGlyArgArgLeuIleAspGlnSerPheLeuAlaPheGluSerSerCysMetThrPheGlyAspLeuValAsnLysTyrCysGlnAlaAlaHisLysLeuMetValAlaValSerGluAspValLeuGlnValTyrAlaAspTrpGlnArgTrpLeuPheGlyGluLeuProLeuCysTyrPheAlaArgValPheAspValPheLeuValGluGlyTyrLysValLeuTyrArgValAlaLeuAlaIleLeuLysPhePheHisLysValArgAlaGlyGlnProLeuGluSerAspSerValLysGlnAspIleArgThrPheValArgAspIleAlaLysThrValSerProGluLysLeuLeuGluLysAlaPheAlaIleArgLeuPheSerArgLysGluIleGlnLeuLeuGlnMetAlaAsnGluLysAlaLeuLysGlnLysGlyIleThrValLysGlnLysArgGlnPheValHisLeuAlaValHisAlaGluAsnPheArgSerGluIleValSerValArgGluMetArgAspIleTrpSerTrpValProGluArgPheAlaLeuCysGlnProLeuLeuLeuPheSerSerLeuGlnHisGlyTyrSerLeuAlaArgPheTyrPheGlnCysGluGlyHisGluProThrLeuLeuLeuIleLysThrThrGlnLysGluValCysGlyAlaTyrLeuSerThrAspTrpSerGluArgAsnLysPheGlyGlyLysLeuGlyPhePheGlyThrGlyGluCysPheValPheArgLeuGlnProGluValGlnArgTyrGluTrpValValIleLysHisProGluLeuThrLysProProProLeuMetAlaAlaGluProThrAlaProLeuSerHisSerAlaSerSerAspProAlaAspArgLeuSerProPheLeuAlaAlaArgHisPheAsnLeuProSerLysThrGluSerMetPheMetAlaGlyGlySerAspCysLeuIleValGlyGlyGlyGlyGlyGlnAlaLeuTyrIleAspGlyAspLeuAsnArgGlyArgThrSerHisCysAspThrPheAsnAsnGlnProLeuCysSerGluAsnPheLeuIleAlaAlaValGluAlaTrpGlyPheGlnAspProAspThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574250"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 303,
          "referenceAllele": "C",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "XM_017023495.1:c.121C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878984.1:p.Gln41Ter",
        "hgvsWellDefined": "XP_016878984.1:p.Gln41_Gln553delinsGlyTyrTrpAlaGlnSerHisAlaLeuArgGlyLysValTyrGlnArgLeuIleArgAspIleProCysArgThrValThrProAspAlaSerValTyrSerAspIleValGlyLysIleValGlyLysHisSerSerSerCysLeuProLeuProGluPheValAspAsnThrGlnValProSerTyrCysLeuAsnAlaArgGlyGluGlyAlaValArgLysIleLeuLeuCysLeuAlaAsnGlnPheProAspIleSerPheCysProAlaLeuProAlaValValAlaLeuLeuLeuHisTyrSerIleAspGluAlaGluCysPheGluLysAlaCysArgIleLeuAlaCysAsnAspProGlyArgArgLeuIleAspGlnSerPheLeuAlaPheGluSerSerCysMetThrPheGlyAspLeuValAsnLysTyrCysGlnAlaAlaHisLysLeuMetValAlaValSerGluAspValLeuGlnValTyrAlaAspTrpGlnArgTrpLeuPheGlyGluLeuProLeuCysTyrPheAlaArgValPheAspValPheLeuValGluGlyTyrLysValLeuTyrArgValAlaLeuAlaIleLeuLysPhePheHisLysValArgAlaGlyGlnProLeuGluSerAspSerValLysGlnAspIleArgThrPheValArgAspIleAlaLysThrValSerProGluLysLeuLeuGluLysAlaPheAlaIleArgLeuPheSerArgLysGluIleGlnLeuLeuGlnMetAlaAsnGluLysAlaLeuLysGlnLysGlyIleThrValLysGlnLysArgGlnPheValHisLeuAlaValHisAlaGluAsnPheArgSerGluIleValSerValArgGluMetArgAspIleTrpSerTrpValProGluArgPheAlaLeuCysGlnProLeuLeuLeuPheSerSerLeuGlnHisGlyTyrSerLeuAlaArgPheTyrPheGlnCysGluGlyHisGluProThrLeuLeuLeuIleLysThrThrGlnLysGluValCysGlyAlaTyrLeuSerThrAspTrpSerGluArgAsnLysPheGlyGlyLysLeuGlyPhePheGlyThrGlyGluCysPheValPheArgLeuGlnProGluValGlnArgTyrGluTrpValValIleLysHisProGluLeuThrLysProProProLeuMetAlaAlaGluProThrAlaProLeuSerHisSerAlaSerSerAspProAlaAspArgLeuSerProPheLeuAlaAlaArgHisPheAsnLeuProSerLysThrGluSerMetPheMetAlaGlyGlySerAspCysLeuIleValGlyGlyGlyGlyGlyGlnAlaLeuTyrIleAspGlyAspLeuAsnArgGlyArgThrSerHisCysAspThrPheAsnAsnGlnProLeuCysSerGluAsnPheLeuIleAlaAlaValGluAlaTrpGlyPheGlnAspProAspThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574251"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 303,
          "referenceAllele": "C",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "XR_001751956.1:n.303C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598735"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645494332",
      "coordinates": [
        {
          "allele": "T",
          "end": 280,
          "referenceAllele": "C",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "NM_001199107.2:c.121C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186036.1:p.Gln41Ter",
        "hgvsWellDefined": "NP_001186036.1:p.Gln41_Gln559delinsGlyTyrTrpAlaGlnSerHisAlaLeuArgGlyLysValTyrGlnArgLeuIleArgAspIleProCysArgThrValThrProAspAlaSerValTyrSerAspIleValGlyLysIleValGlyLysHisSerSerSerCysLeuProLeuProGluPheValAspAsnThrGlnValProSerTyrCysLeuAsnAlaArgGlyGluGlyAlaValArgLysIleLeuLeuCysLeuAlaAsnGlnPheProAspIleSerPheCysProAlaLeuProAlaValValAlaLeuLeuLeuHisTyrSerIleAspGluAlaGluCysPheGluLysAlaCysArgIleLeuAlaCysAsnAspProGlyArgArgLeuIleAspGlnSerPheLeuAlaPheGluSerSerCysMetThrPheGlyAspLeuValAsnLysTyrCysGlnAlaAlaHisLysLeuMetValAlaValSerGluAspValLeuGlnValTyrAlaAspTrpGlnArgTrpLeuPheGlyGluLeuProLeuCysTyrPheAlaArgValPheAspValPheLeuValGluGlyTyrLysValLeuTyrArgValAlaLeuAlaIleLeuLysPhePheHisLysValArgAlaGlyGlnProLeuGluSerAspSerValLysGlnAspIleArgThrPheValArgAspIleAlaLysThrValSerProGluLysLeuLeuGluLysAlaPheAlaIleArgLeuPheSerArgLysGluIleGlnLeuLeuGlnMetAlaAsnGluLysAlaLeuLysGlnLysGlyIleThrValLysGlnLysSerValSerLeuSerLysArgGlnPheValHisLeuAlaValHisAlaGluAsnPheArgSerGluIleValSerValArgGluMetArgAspIleTrpSerTrpValProGluArgPheAlaLeuCysGlnProLeuLeuLeuPheSerSerLeuGlnHisGlyTyrSerLeuAlaArgPheTyrPheGlnCysGluGlyHisGluProThrLeuLeuLeuIleLysThrThrGlnLysGluValCysGlyAlaTyrLeuSerThrAspTrpSerGluArgAsnLysPheGlyGlyLysLeuGlyPhePheGlyThrGlyGluCysPheValPheArgLeuGlnProGluValGlnArgTyrGluTrpValValIleLysHisProGluLeuThrLysProProProLeuMetAlaAlaGluProThrAlaProLeuSerHisSerAlaSerSerAspProAlaAspArgLeuSerProPheLeuAlaAlaArgHisPheAsnLeuProSerLysThrGluSerMetPheMetAlaGlyGlySerAspCysLeuIleValGlyGlyGlyGlyGlyGlnAlaLeuTyrIleAspGlyAspLeuAsnArgGlyArgThrSerHisCysAspThrPheAsnAsnGlnProLeuCysSerGluAsnPheLeuIleAlaAlaValGluAlaTrpGlyPheGlnAspProAspThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679497",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646147.1:c.121C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001199107.2:c.121C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494678.1:p.Gln41Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001186036.1:p.Gln41Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916076238",
      "coordinates": [
        {
          "allele": "T",
          "end": 280,
          "referenceAllele": "C",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "NM_020705.3:c.121C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065756.1:p.Gln41Ter",
        "hgvsWellDefined": "NP_065756.1:p.Gln41_Gln553delinsGlyTyrTrpAlaGlnSerHisAlaLeuArgGlyLysValTyrGlnArgLeuIleArgAspIleProCysArgThrValThrProAspAlaSerValTyrSerAspIleValGlyLysIleValGlyLysHisSerSerSerCysLeuProLeuProGluPheValAspAsnThrGlnValProSerTyrCysLeuAsnAlaArgGlyGluGlyAlaValArgLysIleLeuLeuCysLeuAlaAsnGlnPheProAspIleSerPheCysProAlaLeuProAlaValValAlaLeuLeuLeuHisTyrSerIleAspGluAlaGluCysPheGluLysAlaCysArgIleLeuAlaCysAsnAspProGlyArgArgLeuIleAspGlnSerPheLeuAlaPheGluSerSerCysMetThrPheGlyAspLeuValAsnLysTyrCysGlnAlaAlaHisLysLeuMetValAlaValSerGluAspValLeuGlnValTyrAlaAspTrpGlnArgTrpLeuPheGlyGluLeuProLeuCysTyrPheAlaArgValPheAspValPheLeuValGluGlyTyrLysValLeuTyrArgValAlaLeuAlaIleLeuLysPhePheHisLysValArgAlaGlyGlnProLeuGluSerAspSerValLysGlnAspIleArgThrPheValArgAspIleAlaLysThrValSerProGluLysLeuLeuGluLysAlaPheAlaIleArgLeuPheSerArgLysGluIleGlnLeuLeuGlnMetAlaAsnGluLysAlaLeuLysGlnLysGlyIleThrValLysGlnLysArgGlnPheValHisLeuAlaValHisAlaGluAsnPheArgSerGluIleValSerValArgGluMetArgAspIleTrpSerTrpValProGluArgPheAlaLeuCysGlnProLeuLeuLeuPheSerSerLeuGlnHisGlyTyrSerLeuAlaArgPheTyrPheGlnCysGluGlyHisGluProThrLeuLeuLeuIleLysThrThrGlnLysGluValCysGlyAlaTyrLeuSerThrAspTrpSerGluArgAsnLysPheGlyGlyLysLeuGlyPhePheGlyThrGlyGluCysPheValPheArgLeuGlnProGluValGlnArgTyrGluTrpValValIleLysHisProGluLeuThrLysProProProLeuMetAlaAlaGluProThrAlaProLeuSerHisSerAlaSerSerAspProAlaAspArgLeuSerProPheLeuAlaAlaArgHisPheAsnLeuProSerLysThrGluSerMetPheMetAlaGlyGlySerAspCysLeuIleValGlyGlyGlyGlyGlyGlnAlaLeuTyrIleAspGlyAspLeuAsnArgGlyArgThrSerHisCysAspThrPheAsnAsnGlnProLeuCysSerGluAsnPheLeuIleAlaAlaValGluAlaTrpGlyPheGlnAspProAspThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698270"
    }
  ],
  "type": "nucleotide"
}