{
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  "@id": "http://reg.genome.network/allele/CA2499712",
  "communityStandardTitle": [
    "NM_000158.4(GBE1):c.1300C>T (p.Arg434Ter)"
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        "preferredName": "NM_000158.4(GBE1):c.1300C>T (p.Arg434Ter)"
      }
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/836518",
        "RCV": [
          "RCV001037666",
          "RCV001827226",
          "RCV004536067"
        ],
        "variationId": 836518
      }
    ],
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      {
        "@id": "http://exac.broadinstitute.org/variant/3-81635278-G-A",
        "id": "3-81635278-G-A",
        "variant": "3:81635278 G / A"
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    ],
    "MyVariantInfo_hg19": [
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        "@id": "http://myvariant.info/v1/variant/chr3:g.81635278G>A?assembly=hg19",
        "id": "chr3:g.81635278G>A"
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        "id": "chr3:g.81586127G>A"
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    },
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        "maneStatus": "MANE Select",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290757"
    },
    {
      "coordinates": [
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000419638.1:p.Arg393_Asn661delinsLeuAlaMetAlaIleProAspLysTrpIleGlnLeuLeuLysGluPheLysAspGluAspTrpAsnMetGlyAspIleValTyrThrLeuThrAsnArgArgTyrLeuGluLysCysIleAlaTyrAlaGluSerHisAspGlnAlaLeuValGlyAspLysSerLeuAlaPheTrpLeuMetAspAlaGluMetTyrThrAsnMetSerValLeuThrProPheThrProValIleAspArgGlyIleGlnLeuHisLysMetIleArgLeuIleThrHisGlyLeuGlyGlyGluGlyTyrLeuAsnPheMetGlyAsnGluPheGlyHisProGluTrpLeuAspPheProArgLysGlyAsnAsnGluSerTyrHisTyrAlaArgArgGlnPheHisLeuThrAspAspAspLeuLeuArgTyrLysPheLeuAsnAsnPheAspArgAspMetAsnArgLeuGluGluArgTyrGlyTrpLeuAlaAlaProGlnAlaTyrValSerGluLysHisGluGlyAsnLysIleIleAlaPheGluArgAlaGlyLeuLeuPheIlePheAsnPheHisProSerLysSerTyrThrAspTyrArgValGlyThrAlaLeuProGlyLysPheLysIleValLeuAspSerAspAlaAlaGluTyrGlyGlyHisGlnArgLeuAspHisSerThrAspPhePheSerGluAlaPheGluHisAsnGlyArgProTyrSerLeuLeuValTyrIleProSerArgValAlaLeuIleLeuGlnAsnValAspLeuProAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327720"
    },
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      "geneSymbol": "GBE1",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006220"
    },
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      "@id": "http://reg.genome.network/allele/PA1139668018",
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      "referenceSequence": "http://reg.genome.network/refseq/RS662331",
      "MANE": {
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        },
        "protein": {
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          "RefSeq": {
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        }
      }
    }
  ],
  "type": "nucleotide"
}