{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA374977872",
  "communityStandardTitle": [
    "NM_001114753.3(ENG):c.1326C>A (p.Cys442Ter)"
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  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=444355[alleleid]",
        "alleleId": 444355,
        "preferredName": "NM_001114753.3(ENG):c.1326C>A (p.Cys442Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/453196",
        "RCV": [
          "RCV000523118",
          "RCV001219462",
          "RCV002384020"
        ],
        "variationId": 453196
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.130581097G>T?assembly=hg19",
        "id": "chr9:g.130581097G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.127818818G>T?assembly=hg38",
        "id": "chr9:g.127818818G>T"
      }
    ],
    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/1554809361",
        "rs": 1554809361
      }
    ]
  },
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    {
      "chromosome": "9",
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        {
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        "CM000671.2:g.127818818G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
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          "start": 130581096
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      ],
      "hgvs": [
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        "CM000671.1:g.130581097G>T"
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "9",
      "coordinates": [
        {
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS001605"
    }
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    {
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        {
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      ],
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      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
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        "ENST00000480266.6:c.780C>A"
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914135"
    },
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      ],
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      "geneNCBI_id": 2022,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751176",
      "MANE": {
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        "maneStatus": "MANE Select",
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          },
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          }
        },
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          }
        }
      }
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    {
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      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
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        "hgvsWellDefined": "ENSP00000341917.3:p.Cys442_Gln625delinsLeuAsnMetAspSerLeuSerPheGlnLeuGlyLeuTyrLeuSerProHisPheLeuGlnAlaSerAsnThrIleGluProGlyGlnGlnSerPheValGlnValArgValSerProSerValSerGluPheLeuLeuGlnLeuAspSerCysHisLeuAspLeuGlyProGluGlyGlyThrValGluLeuIleGlnGlyArgAlaAlaLysGlyAsnCysValSerLeuLeuSerProSerProGluGlyAspProArgPheSerPheLeuLeuHisPheTyrThrValProIleProLysThrGlyThrLeuSerCysThrValAlaLeuArgProLysThrGlySerGlnAspGlnGluValHisArgThrValPheMetArgLeuAsnIleIleSerProAspLeuSerGlyCysThrSerLysGlyLeuValLeuProAlaValLeuGlyIleThrPheGlyAlaPheLeuIleGlyAlaLeuLeuThrAlaAlaLeuTrpTyrIleTyrSerHisThrArgGluTyrProArgProProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262075"
    },
    {
      "coordinates": [
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          "referenceAllele": "C",
          "start": 1726
        }
      ],
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      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000373203.8:c.1326C>A"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000362299.4:p.Cys442_Ala658delinsLeuAsnMetAspSerLeuSerPheGlnLeuGlyLeuTyrLeuSerProHisPheLeuGlnAlaSerAsnThrIleGluProGlyGlnGlnSerPheValGlnValArgValSerProSerValSerGluPheLeuLeuGlnLeuAspSerCysHisLeuAspLeuGlyProGluGlyGlyThrValGluLeuIleGlnGlyArgAlaAlaLysGlyAsnCysValSerLeuLeuSerProSerProGluGlyAspProArgPheSerPheLeuLeuHisPheTyrThrValProIleProLysThrGlyThrLeuSerCysThrValAlaLeuArgProLysThrGlySerGlnAspGlnGluValHisArgThrValPheMetArgLeuAsnIleIleSerProAspLeuSerGlyCysThrSerLysGlyLeuValLeuProAlaValLeuGlyIleThrPheGlyAlaPheLeuIleGlyAlaLeuLeuThrAlaAlaLeuTrpTyrIleTyrSerHisThrArgSerProSerLysArgGluProValValAlaValAlaAlaProAlaSerSerGluSerSerSerThrAsnHisSerIleGlySerThrGlnSerThrProCysSerThrSerSerMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269560"
    },
    {
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320452"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825044779",
      "coordinates": [
        {
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          "end": 1744,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
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        "LRG_589t1:c.1326C>A"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000109.1:p.Cys442_Gln625delinsLeuAsnMetAspSerLeuSerPheGlnLeuGlyLeuTyrLeuSerProHisPheLeuGlnAlaSerAsnThrIleGluProGlyGlnGlnSerPheValGlnValArgValSerProSerValSerGluPheLeuLeuGlnLeuAspSerCysHisLeuAspLeuGlyProGluGlyGlyThrValGluLeuIleGlnGlyArgAlaAlaLysGlyAsnCysValSerLeuLeuSerProSerProGluGlyAspProArgPheSerPheLeuLeuHisPheTyrThrValProIleProLysThrGlyThrLeuSerCysThrValAlaLeuArgProLysThrGlySerGlnAspGlnGluValHisArgThrValPheMetArgLeuAsnIleIleSerProAspLeuSerGlyCysThrSerLysGlyLeuValLeuProAlaValLeuGlyIleThrPheGlyAlaPheLeuIleGlyAlaLeuLeuThrAlaAlaLeuTrpTyrIleTyrSerHisThrArgGluTyrProArgProProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658659889",
      "coordinates": [
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
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        "LRG_589t2:c.1326C>A"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001108225.1:p.Cys442_Ala658delinsLeuAsnMetAspSerLeuSerPheGlnLeuGlyLeuTyrLeuSerProHisPheLeuGlnAlaSerAsnThrIleGluProGlyGlnGlnSerPheValGlnValArgValSerProSerValSerGluPheLeuLeuGlnLeuAspSerCysHisLeuAspLeuGlyProGluGlyGlyThrValGluLeuIleGlnGlyArgAlaAlaLysGlyAsnCysValSerLeuLeuSerProSerProGluGlyAspProArgPheSerPheLeuLeuHisPheTyrThrValProIleProLysThrGlyThrLeuSerCysThrValAlaLeuArgProLysThrGlySerGlnAspGlnGluValHisArgThrValPheMetArgLeuAsnIleIleSerProAspLeuSerGlyCysThrSerLysGlyLeuValLeuProAlaValLeuGlyIleThrPheGlyAlaPheLeuIleGlyAlaLeuLeuThrAlaAlaLeuTrpTyrIleTyrSerHisThrArgSerProSerLysArgGluProValValAlaValAlaAlaProAlaSerSerGluSerSerSerThrAsnHisSerIleGlySerThrGlnSerThrProCysSerThrSerSerMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826581601",
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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.Cys260_Ala476delinsLeuAsnMetAspSerLeuSerPheGlnLeuGlyLeuTyrLeuSerProHisPheLeuGlnAlaSerAsnThrIleGluProGlyGlnGlnSerPheValGlnValArgValSerProSerValSerGluPheLeuLeuGlnLeuAspSerCysHisLeuAspLeuGlyProGluGlyGlyThrValGluLeuIleGlnGlyArgAlaAlaLysGlyAsnCysValSerLeuLeuSerProSerProGluGlyAspProArgPheSerPheLeuLeuHisPheTyrThrValProIleProLysThrGlyThrLeuSerCysThrValAlaLeuArgProLysThrGlySerGlnAspGlnGluValHisArgThrValPheMetArgLeuAsnIleIleSerProAspLeuSerGlyCysThrSerLysGlyLeuValLeuProAlaValLeuGlyIleThrPheGlyAlaPheLeuIleGlyAlaLeuLeuThrAlaAlaLeuTrpTyrIleTyrSerHisThrArgSerProSerLysArgGluProValValAlaValAlaAlaProAlaSerSerGluSerSerSerThrAsnHisSerIleGlySerThrGlnSerThrProCysSerThrSerSerMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1568,
          "endIntronDirection": "+",
          "endIntronOffset": 107,
          "referenceAllele": "G",
          "start": 1568,
          "startIntronDirection": "+",
          "startIntronOffset": 106
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      ],
      "hgvs": [
        "NR_136302.1:n.1568+107G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658659889",
      "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_001108225.1:p.Cys442_Ala658delinsLeuAsnMetAspSerLeuSerPheGlnLeuGlyLeuTyrLeuSerProHisPheLeuGlnAlaSerAsnThrIleGluProGlyGlnGlnSerPheValGlnValArgValSerProSerValSerGluPheLeuLeuGlnLeuAspSerCysHisLeuAspLeuGlyProGluGlyGlyThrValGluLeuIleGlnGlyArgAlaAlaLysGlyAsnCysValSerLeuLeuSerProSerProGluGlyAspProArgPheSerPheLeuLeuHisPheTyrThrValProIleProLysThrGlyThrLeuSerCysThrValAlaLeuArgProLysThrGlySerGlnAspGlnGluValHisArgThrValPheMetArgLeuAsnIleIleSerProAspLeuSerGlyCysThrSerLysGlyLeuValLeuProAlaValLeuGlyIleThrPheGlyAlaPheLeuIleGlyAlaLeuLeuThrAlaAlaLeuTrpTyrIleTyrSerHisThrArgSerProSerLysArgGluProValValAlaValAlaAlaProAlaSerSerGluSerSerSerThrAsnHisSerIleGlySerThrGlnSerThrProCysSerThrSerSerMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712132",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000373203.9:c.1326C>A"
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          "RefSeq": {
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        },
        "protein": {
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          "RefSeq": {
            "hgvs": "NP_001108225.1:p.Cys442Ter"
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        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826581601",
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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.Cys260_Ala476delinsLeuAsnMetAspSerLeuSerPheGlnLeuGlyLeuTyrLeuSerProHisPheLeuGlnAlaSerAsnThrIleGluProGlyGlnGlnSerPheValGlnValArgValSerProSerValSerGluPheLeuLeuGlnLeuAspSerCysHisLeuAspLeuGlyProGluGlyGlyThrValGluLeuIleGlnGlyArgAlaAlaLysGlyAsnCysValSerLeuLeuSerProSerProGluGlyAspProArgPheSerPheLeuLeuHisPheTyrThrValProIleProLysThrGlyThrLeuSerCysThrValAlaLeuArgProLysThrGlySerGlnAspGlnGluValHisArgThrValPheMetArgLeuAsnIleIleSerProAspLeuSerGlyCysThrSerLysGlyLeuValLeuProAlaValLeuGlyIleThrPheGlyAlaPheLeuIleGlyAlaLeuLeuThrAlaAlaLeuTrpTyrIleTyrSerHisThrArgSerProSerLysArgGluProValValAlaValAlaAlaProAlaSerSerGluSerSerSerThrAsnHisSerIleGlySerThrGlnSerThrProCysSerThrSerSerMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715455"
    }
  ],
  "type": "nucleotide"
}