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        "hgvsWellDefined": "XP_011509125.1:p.Tyr951_Pro1024delinsSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaAlaProGlnValCysProGlyArgGlnLeuLeuProGlyAlaGlyIleGluAlaAsnLeuGlnGluLysProThrHisSerArgCysValGluAlaAlaGlyArgAsnProAlaArgIleGlnLeuGlyCysAsnGlyAsnAsnAlaThrAsnAsnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541905"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2880,
          "referenceAllele": "C",
          "start": 2879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XM_011510825.3:c.2853C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509127.1:p.Tyr951Ter",
        "hgvsWellDefined": "XP_011509127.1:p.Tyr951_Val979delinsSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaValLysIleIleAspGlyAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541906"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3172,
          "endIntronDirection": "-",
          "endIntronOffset": 3533,
          "referenceAllele": "G",
          "start": 3172,
          "startIntronDirection": "-",
          "startIntronOffset": 3534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025249",
      "geneNCBI_id": 84083,
      "geneSymbol": "ZRANB3",
      "hgvs": [
        "XM_011511966.3:c.3049-3534G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510268.2:n.3049-3534G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542363"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2880,
          "referenceAllele": "C",
          "start": 2879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XR_001738674.2:n.2880C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741843312",
      "coordinates": [
        {
          "allele": "G",
          "end": 2890,
          "referenceAllele": "C",
          "start": 2889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "NM_001172435.2:c.2874C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165906.1:p.Tyr958Ter",
        "hgvsWellDefined": "NP_001165906.1:p.Tyr958_Phe988delinsSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678754"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829727933",
      "coordinates": [
        {
          "allele": "G",
          "end": 2869,
          "referenceAllele": "C",
          "start": 2868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "NM_012233.3:c.2853C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036365.1:p.Tyr951Ter",
        "hgvsWellDefined": "NP_036365.1:p.Tyr951_Phe981delinsSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697025",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264158.13:c.2853C>G"
          },
          "RefSeq": {
            "hgvs": "NM_012233.3:c.2853C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264158.8:p.Tyr951Ter"
          },
          "RefSeq": {
            "hgvs": "NP_036365.1:p.Tyr951Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}