{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA374976825",
  "communityStandardTitle": [
    "NM_001114753.3(ENG):c.1402G>T (p.Glu468Ter)"
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  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2844996[alleleid]",
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        "preferredName": "NM_001114753.3(ENG):c.1402G>T (p.Glu468Ter)"
      }
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2683960",
        "RCV": [
          "RCV003484561",
          "RCV003594704"
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      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.130581021C>A?assembly=hg19",
        "id": "chr9:g.130581021C>A"
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        "@id": "http://myvariant.info/v1/variant/chr9:g.127818742C>A?assembly=hg38",
        "id": "chr9:g.127818742C>A"
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/370554511",
        "rs": 370554511
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    ]
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      "referenceGenome": "GRCh38",
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    },
    {
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    },
    {
      "chromosome": "9",
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      "referenceGenome": "NCBI36",
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    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS001605"
    }
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914135"
    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751176",
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          }
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      }
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    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262075"
    },
    {
      "coordinates": [
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          "start": 1802
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      ],
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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/PA2825044813",
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      ],
      "gene": "http://reg.genome.network/gene/GN003349",
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741833179",
      "coordinates": [
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        }
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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_001108225.1:p.Glu468_Ala658delinsProGlyGlnGlnSerPheValGlnValArgValSerProSerValSerGluPheLeuLeuGlnLeuAspSerCysHisLeuAspLeuGlyProGluGlyGlyThrValGluLeuIleGlnGlyArgAlaAlaLysGlyAsnCysValSerLeuLeuSerProSerProGluGlyAspProArgPheSerPheLeuLeuHisPheTyrThrValProIleProLysThrGlyThrLeuSerCysThrValAlaLeuArgProLysThrGlySerGlnAspGlnGluValHisArgThrValPheMetArgLeuAsnIleIleSerProAspLeuSerGlyCysThrSerLysGlyLeuValLeuProAlaValLeuGlyIleThrPheGlyAlaPheLeuIleGlyAlaLeuLeuThrAlaAlaLeuTrpTyrIleTyrSerHisThrArgSerProSerLysArgGluProValValAlaValAlaAlaProAlaSerSerGluSerSerSerThrAsnHisSerIleGlySerThrGlnSerThrProCysSerThrSerSerMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826581623",
      "coordinates": [
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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.Glu286_Ala476delinsProGlyGlnGlnSerPheValGlnValArgValSerProSerValSerGluPheLeuLeuGlnLeuAspSerCysHisLeuAspLeuGlyProGluGlyGlyThrValGluLeuIleGlnGlyArgAlaAlaLysGlyAsnCysValSerLeuLeuSerProSerProGluGlyAspProArgPheSerPheLeuLeuHisPheTyrThrValProIleProLysThrGlyThrLeuSerCysThrValAlaLeuArgProLysThrGlySerGlnAspGlnGluValHisArgThrValPheMetArgLeuAsnIleIleSerProAspLeuSerGlyCysThrSerLysGlyLeuValLeuProAlaValLeuGlyIleThrPheGlyAlaPheLeuIleGlyAlaLeuLeuThrAlaAlaLeuTrpTyrIleTyrSerHisThrArgSerProSerLysArgGluProValValAlaValAlaAlaProAlaSerSerGluSerSerSerThrAsnHisSerIleGlySerThrGlnSerThrProCysSerThrSerSerMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021073"
    },
    {
      "coordinates": [
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          "end": 1568,
          "endIntronDirection": "+",
          "endIntronOffset": 31,
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          "startIntronDirection": "+",
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      ],
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS528739"
    },
    {
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001108225.1:p.Glu468_Ala658delinsProGlyGlnGlnSerPheValGlnValArgValSerProSerValSerGluPheLeuLeuGlnLeuAspSerCysHisLeuAspLeuGlyProGluGlyGlyThrValGluLeuIleGlnGlyArgAlaAlaLysGlyAsnCysValSerLeuLeuSerProSerProGluGlyAspProArgPheSerPheLeuLeuHisPheTyrThrValProIleProLysThrGlyThrLeuSerCysThrValAlaLeuArgProLysThrGlySerGlnAspGlnGluValHisArgThrValPheMetArgLeuAsnIleIleSerProAspLeuSerGlyCysThrSerLysGlyLeuValLeuProAlaValLeuGlyIleThrPheGlyAlaPheLeuIleGlyAlaLeuLeuThrAlaAlaLeuTrpTyrIleTyrSerHisThrArgSerProSerLysArgGluProValValAlaValAlaAlaProAlaSerSerGluSerSerSerThrAsnHisSerIleGlySerThrGlnSerThrProCysSerThrSerSerMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712132",
      "MANE": {
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        "nucleotide": {
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        },
        "protein": {
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          },
          "RefSeq": {
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          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826581623",
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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.Glu286_Ala476delinsProGlyGlnGlnSerPheValGlnValArgValSerProSerValSerGluPheLeuLeuGlnLeuAspSerCysHisLeuAspLeuGlyProGluGlyGlyThrValGluLeuIleGlnGlyArgAlaAlaLysGlyAsnCysValSerLeuLeuSerProSerProGluGlyAspProArgPheSerPheLeuLeuHisPheTyrThrValProIleProLysThrGlyThrLeuSerCysThrValAlaLeuArgProLysThrGlySerGlnAspGlnGluValHisArgThrValPheMetArgLeuAsnIleIleSerProAspLeuSerGlyCysThrSerLysGlyLeuValLeuProAlaValLeuGlyIleThrPheGlyAlaPheLeuIleGlyAlaLeuLeuThrAlaAlaLeuTrpTyrIleTyrSerHisThrArgSerProSerLysArgGluProValValAlaValAlaAlaProAlaSerSerGluSerSerSerThrAsnHisSerIleGlySerThrGlnSerThrProCysSerThrSerSerMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715455"
    }
  ],
  "type": "nucleotide"
}