{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA374976688",
  "communityStandardTitle": [
    "NM_001114753.3(ENG):c.1411C>T (p.Gln471Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=970573[alleleid]",
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        "preferredName": "NM_001114753.3(ENG):c.1411C>T (p.Gln471Ter)"
      }
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    "ClinVarVariations": [
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/983198",
        "RCV": [
          "RCV001263068",
          "RCV002393677",
          "RCV002537646"
        ],
        "variationId": 983198
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        "@id": "http://myvariant.info/v1/variant/chr9:g.130581012G>A?assembly=hg19",
        "id": "chr9:g.130581012G>A"
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        "id": "chr9:g.127818733G>A"
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/1830395639",
        "rs": 1830395639
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    },
    {
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    },
    {
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      "referenceGenome": "NCBI36",
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      "referenceSequence": "http://reg.genome.network/refseq/RS914135"
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      "geneNCBI_id": 2022,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751176",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262075"
    },
    {
      "coordinates": [
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          "referenceAllele": "C",
          "start": 1811
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      "geneNCBI_id": 2022,
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      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS269560"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320452"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825044818",
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      ],
      "gene": "http://reg.genome.network/gene/GN003349",
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      "hgvs": [
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        "LRG_589t1:c.1411C>T"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139675874",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
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      "geneSymbol": "ENG",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001108225.1:p.Gln472_Ala658delinsSerPheValGlnValArgValSerProSerValSerGluPheLeuLeuGlnLeuAspSerCysHisLeuAspLeuGlyProGluGlyGlyThrValGluLeuIleGlnGlyArgAlaAlaLysGlyAsnCysValSerLeuLeuSerProSerProGluGlyAspProArgPheSerPheLeuLeuHisPheTyrThrValProIleProLysThrGlyThrLeuSerCysThrValAlaLeuArgProLysThrGlySerGlnAspGlnGluValHisArgThrValPheMetArgLeuAsnIleIleSerProAspLeuSerGlyCysThrSerLysGlyLeuValLeuProAlaValLeuGlyIleThrPheGlyAlaPheLeuIleGlyAlaLeuLeuThrAlaAlaLeuTrpTyrIleTyrSerHisThrArgSerProSerLysArgGluProValValAlaValAlaAlaProAlaSerSerGluSerSerSerThrAsnHisSerIleGlySerThrGlnSerThrProCysSerThrSerSerMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826581629",
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      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001265067.1:p.Gln290_Ala476delinsSerPheValGlnValArgValSerProSerValSerGluPheLeuLeuGlnLeuAspSerCysHisLeuAspLeuGlyProGluGlyGlyThrValGluLeuIleGlnGlyArgAlaAlaLysGlyAsnCysValSerLeuLeuSerProSerProGluGlyAspProArgPheSerPheLeuLeuHisPheTyrThrValProIleProLysThrGlyThrLeuSerCysThrValAlaLeuArgProLysThrGlySerGlnAspGlnGluValHisArgThrValPheMetArgLeuAsnIleIleSerProAspLeuSerGlyCysThrSerLysGlyLeuValLeuProAlaValLeuGlyIleThrPheGlyAlaPheLeuIleGlyAlaLeuLeuThrAlaAlaLeuTrpTyrIleTyrSerHisThrArgSerProSerLysArgGluProValValAlaValAlaAlaProAlaSerSerGluSerSerSerThrAsnHisSerIleGlySerThrGlnSerThrProCysSerThrSerSerMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021073"
    },
    {
      "coordinates": [
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          "endIntronDirection": "+",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS528739"
    },
    {
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        "hgvsWellDefined": "NP_001108225.1:p.Gln472_Ala658delinsSerPheValGlnValArgValSerProSerValSerGluPheLeuLeuGlnLeuAspSerCysHisLeuAspLeuGlyProGluGlyGlyThrValGluLeuIleGlnGlyArgAlaAlaLysGlyAsnCysValSerLeuLeuSerProSerProGluGlyAspProArgPheSerPheLeuLeuHisPheTyrThrValProIleProLysThrGlyThrLeuSerCysThrValAlaLeuArgProLysThrGlySerGlnAspGlnGluValHisArgThrValPheMetArgLeuAsnIleIleSerProAspLeuSerGlyCysThrSerLysGlyLeuValLeuProAlaValLeuGlyIleThrPheGlyAlaPheLeuIleGlyAlaLeuLeuThrAlaAlaLeuTrpTyrIleTyrSerHisThrArgSerProSerLysArgGluProValValAlaValAlaAlaProAlaSerSerGluSerSerSerThrAsnHisSerIleGlySerThrGlnSerThrProCysSerThrSerSerMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712132",
      "MANE": {
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        "protein": {
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          "RefSeq": {
            "hgvs": "NP_001108225.1:p.Gln471Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826581629",
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      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001265067.1:p.Gln290_Ala476delinsSerPheValGlnValArgValSerProSerValSerGluPheLeuLeuGlnLeuAspSerCysHisLeuAspLeuGlyProGluGlyGlyThrValGluLeuIleGlnGlyArgAlaAlaLysGlyAsnCysValSerLeuLeuSerProSerProGluGlyAspProArgPheSerPheLeuLeuHisPheTyrThrValProIleProLysThrGlyThrLeuSerCysThrValAlaLeuArgProLysThrGlySerGlnAspGlnGluValHisArgThrValPheMetArgLeuAsnIleIleSerProAspLeuSerGlyCysThrSerLysGlyLeuValLeuProAlaValLeuGlyIleThrPheGlyAlaPheLeuIleGlyAlaLeuLeuThrAlaAlaLeuTrpTyrIleTyrSerHisThrArgSerProSerLysArgGluProValValAlaValAlaAlaProAlaSerSerGluSerSerSerThrAsnHisSerIleGlySerThrGlnSerThrProCysSerThrSerSerMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715455"
    }
  ],
  "type": "nucleotide"
}