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        "hgvsWellDefined": "XP_011509124.1:p.Glu831_Pro1031delinsIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaAlaProGlnValCysProGlyArgGlnLeuLeuProGlyAlaGlyIleGluAlaAsnLeuGlnGluLysProThrHisSerArgCysValGluAlaAlaGlyArgAsnProAlaArgIleGlnLeuGlyCysAsnGlyAsnAsnAlaThrAsnAsnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2534,
          "referenceAllele": "G",
          "start": 2533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XM_011510823.1:c.2491G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509125.1:p.Glu831Ter",
        "hgvsWellDefined": "XP_011509125.1:p.Glu831_Pro1024delinsIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaAlaProGlnValCysProGlyArgGlnLeuLeuProGlyAlaGlyIleGluAlaAsnLeuGlnGluLysProThrHisSerArgCysValGluAlaAlaGlyArgAsnProAlaArgIleGlnLeuGlyCysAsnGlyAsnAsnAlaThrAsnAsnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2534,
          "referenceAllele": "G",
          "start": 2533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XM_011510824.1:c.2491G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509126.1:p.Glu831Ter",
        "hgvsWellDefined": "XP_011509126.1:p.Glu831_Val986delinsIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaValLysIleIleAspGlyAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078085"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2534,
          "referenceAllele": "G",
          "start": 2533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XM_011510825.1:c.2491G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509127.1:p.Glu831Ter",
        "hgvsWellDefined": "XP_011509127.1:p.Glu831_Val979delinsIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaValLysIleIleAspGlyAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2518,
          "referenceAllele": "G",
          "start": 2517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XM_011510823.3:c.2491G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509125.1:p.Glu831Ter",
        "hgvsWellDefined": "XP_011509125.1:p.Glu831_Pro1024delinsIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaAlaProGlnValCysProGlyArgGlnLeuLeuProGlyAlaGlyIleGluAlaAsnLeuGlnGluLysProThrHisSerArgCysValGluAlaAlaGlyArgAsnProAlaArgIleGlnLeuGlyCysAsnGlyAsnAsnAlaThrAsnAsnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541905"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2518,
          "referenceAllele": "G",
          "start": 2517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XM_011510825.3:c.2491G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509127.1:p.Glu831Ter",
        "hgvsWellDefined": "XP_011509127.1:p.Glu831_Val979delinsIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaValLysIleIleAspGlyAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2518,
          "referenceAllele": "G",
          "start": 2517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XR_001738674.2:n.2518G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826065219",
      "coordinates": [
        {
          "allele": "T",
          "end": 2507,
          "referenceAllele": "G",
          "start": 2506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "NM_001172435.2:c.2491G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165906.1:p.Glu831Ter",
        "hgvsWellDefined": "NP_001165906.1:p.Glu831_Phe988delinsIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678754"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913198395",
      "coordinates": [
        {
          "allele": "T",
          "end": 2507,
          "referenceAllele": "G",
          "start": 2506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "NM_012233.3:c.2491G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036365.1:p.Glu831Ter",
        "hgvsWellDefined": "NP_036365.1:p.Glu831_Phe981delinsIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697025",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264158.13:c.2491G>T"
          },
          "RefSeq": {
            "hgvs": "NM_012233.3:c.2491G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264158.8:p.Glu831Ter"
          },
          "RefSeq": {
            "hgvs": "NP_036365.1:p.Glu831Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}