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        "hgvsWellDefined": "ENSP00000351832.2:p.Arg1213_Leu1393delinsGlnGlnPheLeuLeuLysValValSerAlaAlaValGlnAlaGlnHisSerAlaThrLysValLysAspProThrGluGluAlaThrProThrProPheGlyLysAspGlnAspTrpProAlaLeuAlaValAspLeuAlaHisHisLeuGlnValSerGluAspValValArgArgHisTyrValGlyGluLeuTyrAsnTyrGlyValAspHisLeuGlyGluGluAlaIleLeuGlnValHisAspLysGluValLeuAlaSerGlnLeuLeuValLeuThrGlyGlnArgLeuAlaHisAlaLeuLeuHisThrGlnThrLysGluGlyMetGluLeuLeuAlaArgLeuProProThrLeuCysThrTrpLeuLysAlaMetAspProGlnAspLeuGlnAsnThrGluValProIleAlaThrThrAlaLysLeuValAsnLysValIleGluLeuLeuProGluLysHisGlyGlnTyrGlyLeuAlaLeuHisLeuIleGluAlaValGluAlaIleSerLeuProSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749139",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358951.7:c.3637C>T"
          },
          "RefSeq": {
            "hgvs": "NM_012414.4:c.3637C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351832.2:p.Arg1213Ter"
          },
          "RefSeq": {
            "hgvs": "NP_036546.2:p.Arg1213Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3754,
          "referenceAllele": "C",
          "start": 3753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000358951.6:c.3637C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351832.2:p.Arg1213Ter",
        "hgvsWellDefined": "ENSP00000351832.2:p.Arg1213_Leu1393delinsGlnGlnPheLeuLeuLysValValSerAlaAlaValGlnAlaGlnHisSerAlaThrLysValLysAspProThrGluGluAlaThrProThrProPheGlyLysAspGlnAspTrpProAlaLeuAlaValAspLeuAlaHisHisLeuGlnValSerGluAspValValArgArgHisTyrValGlyGluLeuTyrAsnTyrGlyValAspHisLeuGlyGluGluAlaIleLeuGlnValHisAspLysGluValLeuAlaSerGlnLeuLeuValLeuThrGlyGlnArgLeuAlaHisAlaLeuLeuHisThrGlnThrLysGluGlyMetGluLeuLeuAlaArgLeuProProThrLeuCysThrTrpLeuLysAlaMetAspProGlnAspLeuGlnAsnThrGluValProIleAlaThrThrAlaLysLeuValAsnLysValIleGluLeuLeuProGluLysHisGlyGlnTyrGlyLeuAlaLeuHisLeuIleGluAlaValGluAlaIleSerLeuProSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264633"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 85,
          "referenceAllele": "C",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000491005.5:n.85C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328705"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 453,
          "referenceAllele": "C",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "ENST00000491305.1:n.453C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328933"
    },
    {
      "@id": "http://reg.genome.network/allele/PA150657",
      "coordinates": [
        {
          "allele": "T",
          "end": 3801,
          "referenceAllele": "C",
          "start": 3800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "NM_012414.3:c.3637C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036546.2:p.Arg1213Ter",
        "hgvsWellDefined": "NP_036546.2:p.Arg1213_Leu1393delinsGlnGlnPheLeuLeuLysValValSerAlaAlaValGlnAlaGlnHisSerAlaThrLysValLysAspProThrGluGluAlaThrProThrProPheGlyLysAspGlnAspTrpProAlaLeuAlaValAspLeuAlaHisHisLeuGlnValSerGluAspValValArgArgHisTyrValGlyGluLeuTyrAsnTyrGlyValAspHisLeuGlyGluGluAlaIleLeuGlnValHisAspLysGluValLeuAlaSerGlnLeuLeuValLeuThrGlyGlnArgLeuAlaHisAlaLeuLeuHisThrGlnThrLysGluGlyMetGluLeuLeuAlaArgLeuProProThrLeuCysThrTrpLeuLysAlaMetAspProGlnAspLeuGlnAsnThrGluValProIleAlaThrThrAlaLysLeuValAsnLysValIleGluLeuLeuProGluLysHisGlyGlnTyrGlyLeuAlaLeuHisLeuIleGluAlaValGluAlaIleSerLeuProSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032571"
    },
    {
      "@id": "http://reg.genome.network/allele/PA150657",
      "coordinates": [
        {
          "allele": "T",
          "end": 3753,
          "referenceAllele": "C",
          "start": 3752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017168",
      "geneNCBI_id": 25782,
      "geneSymbol": "RAB3GAP2",
      "hgvs": [
        "NM_012414.4:c.3637C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036546.2:p.Arg1213Ter",
        "hgvsWellDefined": "NP_036546.2:p.Arg1213_Leu1393delinsGlnGlnPheLeuLeuLysValValSerAlaAlaValGlnAlaGlnHisSerAlaThrLysValLysAspProThrGluGluAlaThrProThrProPheGlyLysAspGlnAspTrpProAlaLeuAlaValAspLeuAlaHisHisLeuGlnValSerGluAspValValArgArgHisTyrValGlyGluLeuTyrAsnTyrGlyValAspHisLeuGlyGluGluAlaIleLeuGlnValHisAspLysGluValLeuAlaSerGlnLeuLeuValLeuThrGlyGlnArgLeuAlaHisAlaLeuLeuHisThrGlnThrLysGluGlyMetGluLeuLeuAlaArgLeuProProThrLeuCysThrTrpLeuLysAlaMetAspProGlnAspLeuGlnAsnThrGluValProIleAlaThrThrAlaLysLeuValAsnLysValIleGluLeuLeuProGluLysHisGlyGlnTyrGlyLeuAlaLeuHisLeuIleGluAlaValGluAlaIleSerLeuProSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668036",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358951.7:c.3637C>T"
          },
          "RefSeq": {
            "hgvs": "NM_012414.4:c.3637C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351832.2:p.Arg1213Ter"
          },
          "RefSeq": {
            "hgvs": "NP_036546.2:p.Arg1213Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}