{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2499955",
  "communityStandardTitle": [
    "NM_000158.4(GBE1):c.480G>A (p.Trp160Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1479776[alleleid]",
        "alleleId": 1479776,
        "preferredName": "NM_000158.4(GBE1):c.480G>A (p.Trp160Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1376912",
        "RCV": [
          "RCV002252715",
          "RCV001912126",
          "RCV003464198"
        ],
        "variationId": 1376912
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-81699022-C-T",
        "id": "3-81699022-C-T",
        "variant": "3:81699022 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.81699022C>T?assembly=hg19",
        "id": "chr3:g.81699022C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.81649871C>T?assembly=hg38",
        "id": "chr3:g.81649871C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/776943352",
        "rs": 776943352
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        "@id": "http://gnomad.broadinstitute.org/variant/3-81699022-C-T?dataset=gnomad_r2_1",
        "id": "3-81699022-C-T",
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      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-81649871-C-T?dataset=gnomad_r4",
        "id": "3-81649871-C-T",
        "variant": "3:81649871 C / T"
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    ]
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        {
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          "start": 81649870
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
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        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 81699021
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
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        {
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          "end": 81781712,
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          "start": 81781711
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      ],
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      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
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      "coordinates": [
        {
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          "referenceAllele": "G",
          "start": 116929
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      ],
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        "NG_011810.1:g.116930G>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001993"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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        }
      ],
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      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755279",
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          }
        },
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          }
        }
      }
    },
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          "end": 1124,
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      "geneSymbol": "GBE1",
      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290757"
    },
    {
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        {
          "allele": "A",
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          "referenceAllele": "G",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "ENST00000486920.1:n.476G>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS325608"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 410,
          "referenceAllele": "G",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
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      "hgvs": [
        "ENST00000489715.1:c.357G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419638.1:p.Trp119Ter",
        "hgvsWellDefined": "ENSP00000419638.1:p.Trp119_Asn661delinsAlaLysTyrValValArgGluGlyAspAsnValAsnTyrAspTrpIleHisTrpAspProGluHisSerTyrGluPheLysHisSerArgProLysLysProArgSerLeuArgIleTyrGluSerHisValGlyIleSerSerHisGluGlyLysValAlaSerTyrLysHisPheThrCysAsnValLeuProArgIleLysGlyLeuGlyTyrAsnCysIleGlnLeuMetAlaIleMetGluHisAlaTyrTyrAlaSerPheGlyTyrGlnIleThrSerPhePheAlaAlaSerSerArgTyrGlyThrProGluGluLeuGlnGluLeuValAspThrAlaHisSerMetGlyIleIleValLeuLeuAspValValHisSerHisAlaSerLysAsnSerAlaAspGlyLeuAsnMetPheAspGlyThrAspSerCysTyrPheHisSerGlyProArgGlyThrHisAspLeuTrpAspSerArgLeuPheAlaTyrSerSerTrpGluIleLeuArgPheLeuLeuSerAsnIleArgTrpTrpLeuGluGluTyrArgPheAspGlyPheArgPheAspGlyValThrSerMetLeuTyrHisHisHisGlyValGlyGlnGlyPheSerGlyAspTyrSerGluTyrPheGlyLeuGlnValAspGluAspAlaLeuThrTyrLeuMetLeuAlaAsnHisLeuValHisThrLeuCysProAspSerIleThrIleAlaGluAspValSerGlyMetProAlaLeuCysSerProIleSerGlnGlyGlyGlyGlyPheAspTyrArgLeuAlaMetAlaIleProAspLysTrpIleGlnLeuLeuLysGluPheLysAspGluAspTrpAsnMetGlyAspIleValTyrThrLeuThrAsnArgArgTyrLeuGluLysCysIleAlaTyrAlaGluSerHisAspGlnAlaLeuValGlyAspLysSerLeuAlaPheTrpLeuMetAspAlaGluMetTyrThrAsnMetSerValLeuThrProPheThrProValIleAspArgGlyIleGlnLeuHisLysMetIleArgLeuIleThrHisGlyLeuGlyGlyGluGlyTyrLeuAsnPheMetGlyAsnGluPheGlyHisProGluTrpLeuAspPheProArgLysGlyAsnAsnGluSerTyrHisTyrAlaArgArgGlnPheHisLeuThrAspAspAspLeuLeuArgTyrLysPheLeuAsnAsnPheAspArgAspMetAsnArgLeuGluGluArgTyrGlyTrpLeuAlaAlaProGlnAlaTyrValSerGluLysHisGluGlyAsnLysIleIleAlaPheGluArgAlaGlyLeuLeuPheIlePheAsnPheHisProSerLysSerTyrThrAspTyrArgValGlyThrAlaLeuProGlyLysPheLysIleValLeuAspSerAspAlaAlaGluTyrGlyGlyHisGlnArgLeuAspHisSerThrAspPhePheSerGluAlaPheGluHisAsnGlyArgProTyrSerLeuLeuValTyrIleProSerArgValAlaLeuIleLeuGlnAsnValAspLeuProAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327720"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8,
          "referenceAllele": "G",
          "start": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "ENST00000498468.1:n.8G>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS334469"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 763,
          "referenceAllele": "G",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "NM_000158.3:c.480G>A"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_000149.3:p.Trp160_Asn702delinsAlaLysTyrValValArgGluGlyAspAsnValAsnTyrAspTrpIleHisTrpAspProGluHisSerTyrGluPheLysHisSerArgProLysLysProArgSerLeuArgIleTyrGluSerHisValGlyIleSerSerHisGluGlyLysValAlaSerTyrLysHisPheThrCysAsnValLeuProArgIleLysGlyLeuGlyTyrAsnCysIleGlnLeuMetAlaIleMetGluHisAlaTyrTyrAlaSerPheGlyTyrGlnIleThrSerPhePheAlaAlaSerSerArgTyrGlyThrProGluGluLeuGlnGluLeuValAspThrAlaHisSerMetGlyIleIleValLeuLeuAspValValHisSerHisAlaSerLysAsnSerAlaAspGlyLeuAsnMetPheAspGlyThrAspSerCysTyrPheHisSerGlyProArgGlyThrHisAspLeuTrpAspSerArgLeuPheAlaTyrSerSerTrpGluValLeuArgPheLeuLeuSerAsnIleArgTrpTrpLeuGluGluTyrArgPheAspGlyPheArgPheAspGlyValThrSerMetLeuTyrHisHisHisGlyValGlyGlnGlyPheSerGlyAspTyrSerGluTyrPheGlyLeuGlnValAspGluAspAlaLeuThrTyrLeuMetLeuAlaAsnHisLeuValHisThrLeuCysProAspSerIleThrIleAlaGluAspValSerGlyMetProAlaLeuCysSerProIleSerGlnGlyGlyGlyGlyPheAspTyrArgLeuAlaMetAlaIleProAspLysTrpIleGlnLeuLeuLysGluPheLysAspGluAspTrpAsnMetGlyAspIleValTyrThrLeuThrAsnArgArgTyrLeuGluLysCysIleAlaTyrAlaGluSerHisAspGlnAlaLeuValGlyAspLysSerLeuAlaPheTrpLeuMetAspAlaGluMetTyrThrAsnMetSerValLeuThrProPheThrProValIleAspArgGlyIleGlnLeuHisLysMetIleArgLeuIleThrHisGlyLeuGlyGlyGluGlyTyrLeuAsnPheMetGlyAsnGluPheGlyHisProGluTrpLeuAspPheProArgLysGlyAsnAsnGluSerTyrHisTyrAlaArgArgGlnPheHisLeuThrAspAspAspLeuLeuArgTyrLysPheLeuAsnAsnPheAspArgAspMetAsnArgLeuGluGluArgTyrGlyTrpLeuAlaAlaProGlnAlaTyrValSerGluLysHisGluGlyAsnLysIleIleAlaPheGluArgAlaGlyLeuLeuPheIlePheAsnPheHisProSerLysSerTyrThrAspTyrArgValGlyThrAlaLeuProGlyLysPheLysIleValLeuAspSerAspAlaAlaGluTyrGlyGlyHisGlnArgLeuAspHisSerThrAspPhePheSerGluAlaPheGluHisAsnGlyArgProTyrSerLeuLeuValTyrIleProSerArgValAlaLeuIleLeuGlnAsnValAspLeuProAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006220"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573163180",
      "coordinates": [
        {
          "allele": "A",
          "end": 608,
          "referenceAllele": "G",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "NM_000158.4:c.480G>A"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000149.4:p.Trp160_Asn702delinsAlaLysTyrValValArgGluGlyAspAsnValAsnTyrAspTrpIleHisTrpAspProGluHisSerTyrGluPheLysHisSerArgProLysLysProArgSerLeuArgIleTyrGluSerHisValGlyIleSerSerHisGluGlyLysValAlaSerTyrLysHisPheThrCysAsnValLeuProArgIleLysGlyLeuGlyTyrAsnCysIleGlnLeuMetAlaIleMetGluHisAlaTyrTyrAlaSerPheGlyTyrGlnIleThrSerPhePheAlaAlaSerSerArgTyrGlyThrProGluGluLeuGlnGluLeuValAspThrAlaHisSerMetGlyIleIleValLeuLeuAspValValHisSerHisAlaSerLysAsnSerAlaAspGlyLeuAsnMetPheAspGlyThrAspSerCysTyrPheHisSerGlyProArgGlyThrHisAspLeuTrpAspSerArgLeuPheAlaTyrSerSerTrpGluIleLeuArgPheLeuLeuSerAsnIleArgTrpTrpLeuGluGluTyrArgPheAspGlyPheArgPheAspGlyValThrSerMetLeuTyrHisHisHisGlyValGlyGlnGlyPheSerGlyAspTyrSerGluTyrPheGlyLeuGlnValAspGluAspAlaLeuThrTyrLeuMetLeuAlaAsnHisLeuValHisThrLeuCysProAspSerIleThrIleAlaGluAspValSerGlyMetProAlaLeuCysSerProIleSerGlnGlyGlyGlyGlyPheAspTyrArgLeuAlaMetAlaIleProAspLysTrpIleGlnLeuLeuLysGluPheLysAspGluAspTrpAsnMetGlyAspIleValTyrThrLeuThrAsnArgArgTyrLeuGluLysCysIleAlaTyrAlaGluSerHisAspGlnAlaLeuValGlyAspLysSerLeuAlaPheTrpLeuMetAspAlaGluMetTyrThrAsnMetSerValLeuThrProPheThrProValIleAspArgGlyIleGlnLeuHisLysMetIleArgLeuIleThrHisGlyLeuGlyGlyGluGlyTyrLeuAsnPheMetGlyAsnGluPheGlyHisProGluTrpLeuAspPheProArgLysGlyAsnAsnGluSerTyrHisTyrAlaArgArgGlnPheHisLeuThrAspAspAspLeuLeuArgTyrLysPheLeuAsnAsnPheAspArgAspMetAsnArgLeuGluGluArgTyrGlyTrpLeuAlaAlaProGlnAlaTyrValSerGluLysHisGluGlyAsnLysIleIleAlaPheGluArgAlaGlyLeuLeuPheIlePheAsnPheHisProSerLysSerTyrThrAspTyrArgValGlyThrAlaLeuProGlyLysPheLysIleValLeuAspSerAspAlaAlaGluTyrGlyGlyHisGlnArgLeuAspHisSerThrAspPhePheSerGluAlaPheGluHisAsnGlyArgProTyrSerLeuLeuValTyrIleProSerArgValAlaLeuIleLeuGlnAsnValAspLeuProAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662331",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
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          "RefSeq": {
            "hgvs": "NM_000158.4:c.480G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000410833.2:p.Trp160Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000149.4:p.Trp160Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}