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  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA353685879",
  "communityStandardTitle": [
    "NM_000158.4(GBE1):c.1034G>A (p.Trp345Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3087927[alleleid]",
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        "preferredName": "NM_000158.4(GBE1):c.1034G>A (p.Trp345Ter)"
      }
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2932273",
        "RCV": [
          "RCV003795487"
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        "variationId": 2932273
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    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.81643133C>T?assembly=hg19",
        "id": "chr3:g.81643133C>T"
      }
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    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.81593982C>T?assembly=hg38",
        "id": "chr3:g.81593982C>T"
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/1248821695",
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        "@id": "http://gnomad.broadinstitute.org/variant/3-81643133-C-T?dataset=gnomad_r2_1",
        "id": "3-81643133-C-T",
        "variant": "3:81643133 C / T"
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    "gnomAD_4": [
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        "@id": "http://gnomad.broadinstitute.org/variant/3-81593982-C-T?dataset=gnomad_r4",
        "id": "3-81593982-C-T",
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      "chromosome": "3",
      "coordinates": [
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "3",
      "coordinates": [
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    },
    {
      "chromosome": "3",
      "coordinates": [
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          "start": 81725822
        }
      ],
      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
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          "referenceAllele": "G",
          "start": 172818
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      ],
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        "NG_011810.1:g.172819G>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001993"
    }
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      "geneSymbol": "GBE1",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755279",
      "MANE": {
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        "maneStatus": "MANE Select",
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            "hgvs": "NP_000149.4:p.Trp345Ter"
          }
        }
      }
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    {
      "coordinates": [
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          "start": 1677
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      ],
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      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290757"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 964,
          "referenceAllele": "G",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327720"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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        }
      ],
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006220"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741813672",
      "coordinates": [
        {
          "allele": "A",
          "end": 1162,
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        }
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      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
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      "hgvs": [
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        "hgvsWellDefined": "NP_000149.4:p.Trp345_Asn702delinsLeuGluGluTyrArgPheAspGlyPheArgPheAspGlyValThrSerMetLeuTyrHisHisHisGlyValGlyGlnGlyPheSerGlyAspTyrSerGluTyrPheGlyLeuGlnValAspGluAspAlaLeuThrTyrLeuMetLeuAlaAsnHisLeuValHisThrLeuCysProAspSerIleThrIleAlaGluAspValSerGlyMetProAlaLeuCysSerProIleSerGlnGlyGlyGlyGlyPheAspTyrArgLeuAlaMetAlaIleProAspLysTrpIleGlnLeuLeuLysGluPheLysAspGluAspTrpAsnMetGlyAspIleValTyrThrLeuThrAsnArgArgTyrLeuGluLysCysIleAlaTyrAlaGluSerHisAspGlnAlaLeuValGlyAspLysSerLeuAlaPheTrpLeuMetAspAlaGluMetTyrThrAsnMetSerValLeuThrProPheThrProValIleAspArgGlyIleGlnLeuHisLysMetIleArgLeuIleThrHisGlyLeuGlyGlyGluGlyTyrLeuAsnPheMetGlyAsnGluPheGlyHisProGluTrpLeuAspPheProArgLysGlyAsnAsnGluSerTyrHisTyrAlaArgArgGlnPheHisLeuThrAspAspAspLeuLeuArgTyrLysPheLeuAsnAsnPheAspArgAspMetAsnArgLeuGluGluArgTyrGlyTrpLeuAlaAlaProGlnAlaTyrValSerGluLysHisGluGlyAsnLysIleIleAlaPheGluArgAlaGlyLeuLeuPheIlePheAsnPheHisProSerLysSerTyrThrAspTyrArgValGlyThrAlaLeuProGlyLysPheLysIleValLeuAspSerAspAlaAlaGluTyrGlyGlyHisGlnArgLeuAspHisSerThrAspPhePheSerGluAlaPheGluHisAsnGlyArgProTyrSerLeuLeuValTyrIleProSerArgValAlaLeuIleLeuGlnAsnValAspLeuProAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662331",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          "RefSeq": {
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          }
        },
        "protein": {
          "Ensembl": {
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          },
          "RefSeq": {
            "hgvs": "NP_000149.4:p.Trp345Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}