{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA353687438",
  "communityStandardTitle": [
    "NM_000158.4(GBE1):c.854T>G (p.Leu285Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2835974[alleleid]",
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        "preferredName": "NM_000158.4(GBE1):c.854T>G (p.Leu285Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2675857",
        "RCV": [
          "RCV003461670"
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        "variationId": 2675857
      }
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    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.81692070A>C?assembly=hg19",
        "id": "chr3:g.81692070A>C"
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    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.81642919A>C?assembly=hg38",
        "id": "chr3:g.81642919A>C"
      }
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    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1704706313",
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    },
    {
      "chromosome": "3",
      "coordinates": [
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    {
      "chromosome": "3",
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
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        {
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          "end": 123882,
          "referenceAllele": "T",
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS001993"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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          "end": 982,
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      "geneNCBI_id": 2632,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755279",
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          }
        }
      }
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        {
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          "end": 1498,
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      "geneNCBI_id": 2632,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290757"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 784,
          "referenceAllele": "T",
          "start": 783
        }
      ],
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      "geneNCBI_id": 2632,
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327720"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 404,
          "referenceAllele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "ENST00000498468.1:n.404T>G"
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      "referenceSequence": "http://reg.genome.network/refseq/RS334469"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1137,
          "referenceAllele": "T",
          "start": 1136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "NM_000158.3:c.854T>G"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000149.3:p.Leu285_Asn702delinsAspValValHisSerHisAlaSerLysAsnSerAlaAspGlyLeuAsnMetPheAspGlyThrAspSerCysTyrPheHisSerGlyProArgGlyThrHisAspLeuTrpAspSerArgLeuPheAlaTyrSerSerTrpGluValLeuArgPheLeuLeuSerAsnIleArgTrpTrpLeuGluGluTyrArgPheAspGlyPheArgPheAspGlyValThrSerMetLeuTyrHisHisHisGlyValGlyGlnGlyPheSerGlyAspTyrSerGluTyrPheGlyLeuGlnValAspGluAspAlaLeuThrTyrLeuMetLeuAlaAsnHisLeuValHisThrLeuCysProAspSerIleThrIleAlaGluAspValSerGlyMetProAlaLeuCysSerProIleSerGlnGlyGlyGlyGlyPheAspTyrArgLeuAlaMetAlaIleProAspLysTrpIleGlnLeuLeuLysGluPheLysAspGluAspTrpAsnMetGlyAspIleValTyrThrLeuThrAsnArgArgTyrLeuGluLysCysIleAlaTyrAlaGluSerHisAspGlnAlaLeuValGlyAspLysSerLeuAlaPheTrpLeuMetAspAlaGluMetTyrThrAsnMetSerValLeuThrProPheThrProValIleAspArgGlyIleGlnLeuHisLysMetIleArgLeuIleThrHisGlyLeuGlyGlyGluGlyTyrLeuAsnPheMetGlyAsnGluPheGlyHisProGluTrpLeuAspPheProArgLysGlyAsnAsnGluSerTyrHisTyrAlaArgArgGlnPheHisLeuThrAspAspAspLeuLeuArgTyrLysPheLeuAsnAsnPheAspArgAspMetAsnArgLeuGluGluArgTyrGlyTrpLeuAlaAlaProGlnAlaTyrValSerGluLysHisGluGlyAsnLysIleIleAlaPheGluArgAlaGlyLeuLeuPheIlePheAsnPheHisProSerLysSerTyrThrAspTyrArgValGlyThrAlaLeuProGlyLysPheLysIleValLeuAspSerAspAlaAlaGluTyrGlyGlyHisGlnArgLeuAspHisSerThrAspPhePheSerGluAlaPheGluHisAsnGlyArgProTyrSerLeuLeuValTyrIleProSerArgValAlaLeuIleLeuGlnAsnValAspLeuProAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006220"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741813667",
      "coordinates": [
        {
          "allele": "G",
          "end": 982,
          "referenceAllele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "NM_000158.4:c.854T>G"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662331",
      "MANE": {
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        "maneStatus": "MANE Select",
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            "hgvs": "NM_000158.4:c.854T>G"
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        },
        "protein": {
          "Ensembl": {
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          },
          "RefSeq": {
            "hgvs": "NP_000149.4:p.Leu285Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}