{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA366643404",
  "communityStandardTitle": [
    "NM_032415.7(CARD11):c.2062C>T (p.Arg688Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1088990",
        "active": true,
        "id": "COSM1088990"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1061077[alleleid]",
        "alleleId": 1061077,
        "preferredName": "NM_032415.7(CARD11):c.2062C>T (p.Arg688Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1069758",
        "RCV": [
          "RCV001381722"
        ],
        "variationId": 1069758
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.2962846G>A?assembly=hg19",
        "id": "chr7:g.2962846G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.2923212G>A?assembly=hg38",
        "id": "chr7:g.2923212G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2115044716",
        "rs": 2115044716
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    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-2923212-G-A?dataset=gnomad_r4",
        "id": "7-2923212-G-A",
        "variant": "7:2923212 G / A"
      }
    ]
  },
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      "chromosome": "7",
      "coordinates": [
        {
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          "end": 2923212,
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      ],
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
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        }
      ],
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
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          "end": 2929372,
          "referenceAllele": "G",
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      ],
      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 125664,
          "referenceAllele": "C",
          "start": 125663
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      ],
      "hgvs": [
        "NG_027759.1:g.125664C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS003960"
    }
  ],
  "transcriptAlleles": [
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      "coordinates": [
        {
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          "end": 2388,
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          "start": 2387
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      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
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        "ENST00000698637.1:n.2388C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS909592"
    },
    {
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      ],
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      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753581",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          "RefSeq": {
            "hgvs": "NM_032415.7:c.2062C>T"
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          "RefSeq": {
            "hgvs": "NP_115791.3:p.Arg688Ter"
          }
        }
      }
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    {
      "coordinates": [
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          "start": 474
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      ],
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      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000355508.3:c.475C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347695.3:p.Arg159Ter",
        "hgvsWellDefined": "ENSP00000347695.3:p.Arg159_Val272del"
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      "referenceSequence": "http://reg.genome.network/refseq/RS263455"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
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      "hgvs": [
        "ENST00000396946.8:c.2062C>T"
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      "proteinEffect": {
        "hgvs": "ENSP00000380150.4:p.Arg688Ter",
        "hgvsWellDefined": "ENSP00000380150.4:p.Arg688_Leu1154delinsGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277510"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499293282",
      "coordinates": [
        {
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
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        "NM_032415.5:c.2062C>T"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2460,
          "referenceAllele": "C",
          "start": 2459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011513887.1:p.Arg688_Leu1154delinsGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082805"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2464,
          "referenceAllele": "C",
          "start": 2463
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082806"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2458,
          "referenceAllele": "C",
          "start": 2457
        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082807"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827247031",
      "coordinates": [
        {
          "allele": "T",
          "end": 2527,
          "referenceAllele": "C",
          "start": 2526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_001324281.1:c.2062C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311210.1:p.Arg688Ter",
        "hgvsWellDefined": "NP_001311210.1:p.Arg688_Leu1154delinsGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515872"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2495,
          "referenceAllele": "C",
          "start": 2494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515586.2:c.2062C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513888.1:p.Arg688Ter",
        "hgvsWellDefined": "XP_011513888.1:p.Arg688_Leu1154delinsGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543816"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2458,
          "referenceAllele": "C",
          "start": 2457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515587.2:c.2059C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513889.1:p.Arg687Ter",
        "hgvsWellDefined": "XP_011513889.1:p.Arg687_Leu1153delinsGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543817"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2461,
          "referenceAllele": "C",
          "start": 2460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XR_001744885.1:n.2461C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593524"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827247031",
      "coordinates": [
        {
          "allele": "T",
          "end": 2449,
          "referenceAllele": "C",
          "start": 2448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_001324281.2:c.2062C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311210.1:p.Arg688Ter",
        "hgvsWellDefined": "NP_001311210.1:p.Arg688_Leu1154delinsGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686301"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499293282",
      "coordinates": [
        {
          "allele": "T",
          "end": 2388,
          "referenceAllele": "C",
          "start": 2387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_032415.6:c.2062C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_115791.3:p.Arg688Ter",
        "hgvsWellDefined": "NP_115791.3:p.Arg688_Leu1154delinsGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699096"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827247031",
      "coordinates": [
        {
          "allele": "T",
          "end": 2449,
          "referenceAllele": "C",
          "start": 2448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_001324281.3:c.2062C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311210.1:p.Arg688Ter",
        "hgvsWellDefined": "NP_001311210.1:p.Arg688_Leu1154delinsGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718457"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499293282",
      "coordinates": [
        {
          "allele": "T",
          "end": 2388,
          "referenceAllele": "C",
          "start": 2387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_032415.7:c.2062C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_115791.3:p.Arg688Ter",
        "hgvsWellDefined": "NP_115791.3:p.Arg688_Leu1154delinsGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728832",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396946.9:c.2062C>T"
          },
          "RefSeq": {
            "hgvs": "NM_032415.7:c.2062C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380150.4:p.Arg688Ter"
          },
          "RefSeq": {
            "hgvs": "NP_115791.3:p.Arg688Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}