{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA366646307",
  "communityStandardTitle": [
    "NM_032415.7(CARD11):c.793C>T (p.Gln265Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1061078[alleleid]",
        "alleleId": 1061078,
        "preferredName": "NM_032415.7(CARD11):c.793C>T (p.Gln265Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1070449",
        "RCV": [
          "RCV001382589"
        ],
        "variationId": 1070449
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.2979454G>A?assembly=hg19",
        "id": "chr7:g.2979454G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.2939820G>A?assembly=hg38",
        "id": "chr7:g.2939820G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2115075086",
        "rs": 2115075086
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 2939820,
          "referenceAllele": "G",
          "start": 2939819
        }
      ],
      "hgvs": [
        "NC_000007.14:g.2939820G>A",
        "CM000669.2:g.2939820G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 2979454,
          "referenceAllele": "G",
          "start": 2979453
        }
      ],
      "hgvs": [
        "NC_000007.13:g.2979454G>A",
        "CM000669.1:g.2979454G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 2945980,
          "referenceAllele": "G",
          "start": 2945979
        }
      ],
      "hgvs": [
        "NC_000007.12:g.2945980G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 109056,
          "referenceAllele": "C",
          "start": 109055
        }
      ],
      "hgvs": [
        "NG_027759.1:g.109056C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003960"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1119,
          "referenceAllele": "C",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000698637.1:n.1119C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909592"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1052,
          "referenceAllele": "C",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000698654.1:n.1052C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909608"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 993,
          "referenceAllele": "C",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000698662.1:n.993C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909615"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1119,
          "referenceAllele": "C",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000396946.9:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380150.4:p.Gln265Ter",
        "hgvsWellDefined": "ENSP00000380150.4:p.Gln265_Leu1154delinsValLeuGluLeuGluArgGluAsnGluMetLeuLysThrLysAsnGlnGluLeuGlnSerIleIleGlnAlaGlyLysArgSerLeuProAspSerAspLysAlaIleLeuAspIleLeuGluHisAspArgLysGluAlaLeuGluAspArgGlnGluLeuValAsnArgIleTyrAsnLeuGlnGluGluAlaArgGlnAlaGluGluLeuArgAspLysTyrLeuGluGluLysGluAspLeuGluLeuLysCysSerThrLeuGlyLysAspCysGluMetTyrLysHisArgMetAsnThrValMetLeuGlnLeuGluGluValGluArgGluArgAspGlnAlaPheHisSerArgAspGluAlaGlnThrGlnTyrSerGlnCysLeuIleGluLysAspLysTyrArgLysGlnIleArgGluLeuGluGluLysAsnAspGluMetArgIleGluMetValArgArgGluAlaCysIleValAsnLeuGluSerLysLeuArgArgLeuSerLysAspSerAsnAsnLeuAspGlnSerLeuProArgAsnLeuProValThrIleIleSerGlnAspPheGlyAspAlaSerProArgThrAsnGlyGlnGluAlaAspAspSerSerThrSerGluGluSerProGluAspSerLysTyrPheLeuProTyrHisProProGlnArgArgMetAsnLeuLysGlyIleGlnLeuGlnArgAlaLysSerProIleSerLeuLysArgThrSerAspPheGlnAlaLysGlyHisGluGluGluGlyThrAspAlaSerProSerSerCysGlySerLeuProIleThrAsnSerPheThrLysMetGlnProProArgSerArgSerSerIleMetSerIleThrAlaGluProProGlyAsnAspSerIleValArgArgTyrLysGluAspAlaProHisArgSerThrValGluGluAspAsnAspSerGlyGlyPheAspAlaLeuAspLeuAspAspAspSerHisGluArgTyrSerPheGlyProSerSerIleHisSerSerSerSerSerHisGlnSerGluGlyLeuAspAlaTyrAspLeuGluGlnValAsnLeuMetPheArgLysPheSerLeuGluArgProPheArgProSerValThrSerValGlyHisValArgGlyProGlyProSerValGlnHisThrThrLeuAsnGlyAspSerLeuThrSerGlnLeuThrLeuLeuGlyGlyAsnAlaArgGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753581",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396946.9:c.793C>T"
          },
          "RefSeq": {
            "hgvs": "NM_032415.7:c.793C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380150.4:p.Gln265Ter"
          },
          "RefSeq": {
            "hgvs": "NP_115791.3:p.Gln265Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1197,
          "referenceAllele": "C",
          "start": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000396946.8:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380150.4:p.Gln265Ter",
        "hgvsWellDefined": "ENSP00000380150.4:p.Gln265_Leu1154delinsValLeuGluLeuGluArgGluAsnGluMetLeuLysThrLysAsnGlnGluLeuGlnSerIleIleGlnAlaGlyLysArgSerLeuProAspSerAspLysAlaIleLeuAspIleLeuGluHisAspArgLysGluAlaLeuGluAspArgGlnGluLeuValAsnArgIleTyrAsnLeuGlnGluGluAlaArgGlnAlaGluGluLeuArgAspLysTyrLeuGluGluLysGluAspLeuGluLeuLysCysSerThrLeuGlyLysAspCysGluMetTyrLysHisArgMetAsnThrValMetLeuGlnLeuGluGluValGluArgGluArgAspGlnAlaPheHisSerArgAspGluAlaGlnThrGlnTyrSerGlnCysLeuIleGluLysAspLysTyrArgLysGlnIleArgGluLeuGluGluLysAsnAspGluMetArgIleGluMetValArgArgGluAlaCysIleValAsnLeuGluSerLysLeuArgArgLeuSerLysAspSerAsnAsnLeuAspGlnSerLeuProArgAsnLeuProValThrIleIleSerGlnAspPheGlyAspAlaSerProArgThrAsnGlyGlnGluAlaAspAspSerSerThrSerGluGluSerProGluAspSerLysTyrPheLeuProTyrHisProProGlnArgArgMetAsnLeuLysGlyIleGlnLeuGlnArgAlaLysSerProIleSerLeuLysArgThrSerAspPheGlnAlaLysGlyHisGluGluGluGlyThrAspAlaSerProSerSerCysGlySerLeuProIleThrAsnSerPheThrLysMetGlnProProArgSerArgSerSerIleMetSerIleThrAlaGluProProGlyAsnAspSerIleValArgArgTyrLysGluAspAlaProHisArgSerThrValGluGluAspAsnAspSerGlyGlyPheAspAlaLeuAspLeuAspAspAspSerHisGluArgTyrSerPheGlyProSerSerIleHisSerSerSerSerSerHisGlnSerGluGlyLeuAspAlaTyrAspLeuGluGlnValAsnLeuMetPheArgLysPheSerLeuGluArgProPheArgProSerValThrSerValGlyHisValArgGlyProGlyProSerValGlnHisThrThrLeuAsnGlyAspSerLeuThrSerGlnLeuThrLeuLeuGlyGlyAsnAlaArgGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277510"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499293268",
      "coordinates": [
        {
          "allele": "T",
          "end": 1197,
          "referenceAllele": "C",
          "start": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_032415.5:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_115791.3:p.Gln265Ter",
        "hgvsWellDefined": "NP_115791.3:p.Gln265_Leu1154delinsValLeuGluLeuGluArgGluAsnGluMetLeuLysThrLysAsnGlnGluLeuGlnSerIleIleGlnAlaGlyLysArgSerLeuProAspSerAspLysAlaIleLeuAspIleLeuGluHisAspArgLysGluAlaLeuGluAspArgGlnGluLeuValAsnArgIleTyrAsnLeuGlnGluGluAlaArgGlnAlaGluGluLeuArgAspLysTyrLeuGluGluLysGluAspLeuGluLeuLysCysSerThrLeuGlyLysAspCysGluMetTyrLysHisArgMetAsnThrValMetLeuGlnLeuGluGluValGluArgGluArgAspGlnAlaPheHisSerArgAspGluAlaGlnThrGlnTyrSerGlnCysLeuIleGluLysAspLysTyrArgLysGlnIleArgGluLeuGluGluLysAsnAspGluMetArgIleGluMetValArgArgGluAlaCysIleValAsnLeuGluSerLysLeuArgArgLeuSerLysAspSerAsnAsnLeuAspGlnSerLeuProArgAsnLeuProValThrIleIleSerGlnAspPheGlyAspAlaSerProArgThrAsnGlyGlnGluAlaAspAspSerSerThrSerGluGluSerProGluAspSerLysTyrPheLeuProTyrHisProProGlnArgArgMetAsnLeuLysGlyIleGlnLeuGlnArgAlaLysSerProIleSerLeuLysArgThrSerAspPheGlnAlaLysGlyHisGluGluGluGlyThrAspAlaSerProSerSerCysGlySerLeuProIleThrAsnSerPheThrLysMetGlnProProArgSerArgSerSerIleMetSerIleThrAlaGluProProGlyAsnAspSerIleValArgArgTyrLysGluAspAlaProHisArgSerThrValGluGluAspAsnAspSerGlyGlyPheAspAlaLeuAspLeuAspAspAspSerHisGluArgTyrSerPheGlyProSerSerIleHisSerSerSerSerSerHisGlnSerGluGlyLeuAspAlaTyrAspLeuGluGlnValAsnLeuMetPheArgLysPheSerLeuGluArgProPheArgProSerValThrSerValGlyHisValArgGlyProGlyProSerValGlnHisThrThrLeuAsnGlyAspSerLeuThrSerGlnLeuThrLeuLeuGlyGlyAsnAlaArgGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1191,
          "referenceAllele": "C",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515585.1:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513887.1:p.Gln265Ter",
        "hgvsWellDefined": "XP_011513887.1:p.Gln265_Leu1154delinsValLeuGluLeuGluArgGluAsnGluMetLeuLysThrLysAsnGlnGluLeuGlnSerIleIleGlnAlaGlyLysArgSerLeuProAspSerAspLysAlaIleLeuAspIleLeuGluHisAspArgLysGluAlaLeuGluAspArgGlnGluLeuValAsnArgIleTyrAsnLeuGlnGluGluAlaArgGlnAlaGluGluLeuArgAspLysTyrLeuGluGluLysGluAspLeuGluLeuLysCysSerThrLeuGlyLysAspCysGluMetTyrLysHisArgMetAsnThrValMetLeuGlnLeuGluGluValGluArgGluArgAspGlnAlaPheHisSerArgAspGluAlaGlnThrGlnTyrSerGlnCysLeuIleGluLysAspLysTyrArgLysGlnIleArgGluLeuGluGluLysAsnAspGluMetArgIleGluMetValArgArgGluAlaCysIleValAsnLeuGluSerLysLeuArgArgLeuSerLysAspSerAsnAsnLeuAspGlnSerLeuProArgAsnLeuProValThrIleIleSerGlnAspPheGlyAspAlaSerProArgThrAsnGlyGlnGluAlaAspAspSerSerThrSerGluGluSerProGluAspSerLysTyrPheLeuProTyrHisProProGlnArgArgMetAsnLeuLysGlyIleGlnLeuGlnArgAlaLysSerProIleSerLeuLysArgThrSerAspPheGlnAlaLysGlyHisGluGluGluGlyThrAspAlaSerProSerSerCysGlySerLeuProIleThrAsnSerPheThrLysMetGlnProProArgSerArgSerSerIleMetSerIleThrAlaGluProProGlyAsnAspSerIleValArgArgTyrLysGluAspAlaProHisArgSerThrValGluGluAspAsnAspSerGlyGlyPheAspAlaLeuAspLeuAspAspAspSerHisGluArgTyrSerPheGlyProSerSerIleHisSerSerSerSerSerHisGlnSerGluGlyLeuAspAlaTyrAspLeuGluGlnValAsnLeuMetPheArgLysPheSerLeuGluArgProPheArgProSerValThrSerValGlyHisValArgGlyProGlyProSerValGlnHisThrThrLeuAsnGlyAspSerLeuThrSerGlnLeuThrLeuLeuGlyGlyAsnAlaArgGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082805"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1195,
          "referenceAllele": "C",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515586.1:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513888.1:p.Gln265Ter",
        "hgvsWellDefined": "XP_011513888.1:p.Gln265_Leu1154delinsValLeuGluLeuGluArgGluAsnGluMetLeuLysThrLysAsnGlnGluLeuGlnSerIleIleGlnAlaGlyLysArgSerLeuProAspSerAspLysAlaIleLeuAspIleLeuGluHisAspArgLysGluAlaLeuGluAspArgGlnGluLeuValAsnArgIleTyrAsnLeuGlnGluGluAlaArgGlnAlaGluGluLeuArgAspLysTyrLeuGluGluLysGluAspLeuGluLeuLysCysSerThrLeuGlyLysAspCysGluMetTyrLysHisArgMetAsnThrValMetLeuGlnLeuGluGluValGluArgGluArgAspGlnAlaPheHisSerArgAspGluAlaGlnThrGlnTyrSerGlnCysLeuIleGluLysAspLysTyrArgLysGlnIleArgGluLeuGluGluLysAsnAspGluMetArgIleGluMetValArgArgGluAlaCysIleValAsnLeuGluSerLysLeuArgArgLeuSerLysAspSerAsnAsnLeuAspGlnSerLeuProArgAsnLeuProValThrIleIleSerGlnAspPheGlyAspAlaSerProArgThrAsnGlyGlnGluAlaAspAspSerSerThrSerGluGluSerProGluAspSerLysTyrPheLeuProTyrHisProProGlnArgArgMetAsnLeuLysGlyIleGlnLeuGlnArgAlaLysSerProIleSerLeuLysArgThrSerAspPheGlnAlaLysGlyHisGluGluGluGlyThrAspAlaSerProSerSerCysGlySerLeuProIleThrAsnSerPheThrLysMetGlnProProArgSerArgSerSerIleMetSerIleThrAlaGluProProGlyAsnAspSerIleValArgArgTyrLysGluAspAlaProHisArgSerThrValGluGluAspAsnAspSerGlyGlyPheAspAlaLeuAspLeuAspAspAspSerHisGluArgTyrSerPheGlyProSerSerIleHisSerSerSerSerSerHisGlnSerGluGlyLeuAspAlaTyrAspLeuGluGlnValAsnLeuMetPheArgLysPheSerLeuGluArgProPheArgProSerValThrSerValGlyHisValArgGlyProGlyProSerValGlnHisThrThrLeuAsnGlyAspSerLeuThrSerGlnLeuThrLeuLeuGlyGlyAsnAlaArgGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082806"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1192,
          "referenceAllele": "C",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515587.1:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513889.1:p.Gln265Ter",
        "hgvsWellDefined": "XP_011513889.1:p.Gln265_Leu1153delinsValLeuGluLeuGluArgGluAsnGluMetLeuLysThrLysAsnGlnGluLeuGlnSerIleIleGlnAlaGlyLysArgSerLeuProAspSerAspLysAlaIleLeuAspIleLeuGluHisAspArgLysGluAlaLeuGluAspArgGlnGluLeuValAsnArgIleTyrAsnLeuGlnGluGluAlaArgGlnAlaGluGluLeuArgAspLysTyrLeuGluGluLysGluAspLeuGluLeuLysCysSerThrLeuGlyLysAspCysGluMetTyrLysHisArgMetAsnThrValMetLeuGlnLeuGluGluValGluArgGluArgAspGlnAlaPheHisSerArgAspGluAlaGlnThrGlnTyrSerGlnCysLeuIleGluLysAspLysTyrArgLysGlnIleArgGluLeuGluGluLysAsnAspGluMetArgIleGluMetValArgArgGluAlaCysIleValAsnLeuGluSerLysLeuArgArgLeuSerLysAspSerAsnAsnLeuAspGlnSerLeuProArgAsnLeuProValThrIleIleSerGlnAspPheGlyAspAlaSerProArgThrAsnGlyGlnGluAlaAspAspSerSerThrSerGluGluSerProGluAspSerLysTyrPheLeuProTyrHisProProGlnArgArgMetAsnLeuLysGlyIleGlnLeuGlnArgAlaLysSerProIleSerLeuLysArgThrSerAspPheGlnAlaLysGlyHisGluGluGluGlyThrAspAlaSerProSerSerCysGlySerLeuProIleThrAsnSerPheThrLysMetProProArgSerArgSerSerIleMetSerIleThrAlaGluProProGlyAsnAspSerIleValArgArgTyrLysGluAspAlaProHisArgSerThrValGluGluAspAsnAspSerGlyGlyPheAspAlaLeuAspLeuAspAspAspSerHisGluArgTyrSerPheGlyProSerSerIleHisSerSerSerSerSerHisGlnSerGluGlyLeuAspAlaTyrAspLeuGluGlnValAsnLeuMetPheArgLysPheSerLeuGluArgProPheArgProSerValThrSerValGlyHisValArgGlyProGlyProSerValGlnHisThrThrLeuAsnGlyAspSerLeuThrSerGlnLeuThrLeuLeuGlyGlyAsnAlaArgGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082807"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827246784",
      "coordinates": [
        {
          "allele": "T",
          "end": 1258,
          "referenceAllele": "C",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_001324281.1:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311210.1:p.Gln265Ter",
        "hgvsWellDefined": "NP_001311210.1:p.Gln265_Leu1154delinsValLeuGluLeuGluArgGluAsnGluMetLeuLysThrLysAsnGlnGluLeuGlnSerIleIleGlnAlaGlyLysArgSerLeuProAspSerAspLysAlaIleLeuAspIleLeuGluHisAspArgLysGluAlaLeuGluAspArgGlnGluLeuValAsnArgIleTyrAsnLeuGlnGluGluAlaArgGlnAlaGluGluLeuArgAspLysTyrLeuGluGluLysGluAspLeuGluLeuLysCysSerThrLeuGlyLysAspCysGluMetTyrLysHisArgMetAsnThrValMetLeuGlnLeuGluGluValGluArgGluArgAspGlnAlaPheHisSerArgAspGluAlaGlnThrGlnTyrSerGlnCysLeuIleGluLysAspLysTyrArgLysGlnIleArgGluLeuGluGluLysAsnAspGluMetArgIleGluMetValArgArgGluAlaCysIleValAsnLeuGluSerLysLeuArgArgLeuSerLysAspSerAsnAsnLeuAspGlnSerLeuProArgAsnLeuProValThrIleIleSerGlnAspPheGlyAspAlaSerProArgThrAsnGlyGlnGluAlaAspAspSerSerThrSerGluGluSerProGluAspSerLysTyrPheLeuProTyrHisProProGlnArgArgMetAsnLeuLysGlyIleGlnLeuGlnArgAlaLysSerProIleSerLeuLysArgThrSerAspPheGlnAlaLysGlyHisGluGluGluGlyThrAspAlaSerProSerSerCysGlySerLeuProIleThrAsnSerPheThrLysMetGlnProProArgSerArgSerSerIleMetSerIleThrAlaGluProProGlyAsnAspSerIleValArgArgTyrLysGluAspAlaProHisArgSerThrValGluGluAspAsnAspSerGlyGlyPheAspAlaLeuAspLeuAspAspAspSerHisGluArgTyrSerPheGlyProSerSerIleHisSerSerSerSerSerHisGlnSerGluGlyLeuAspAlaTyrAspLeuGluGlnValAsnLeuMetPheArgLysPheSerLeuGluArgProPheArgProSerValThrSerValGlyHisValArgGlyProGlyProSerValGlnHisThrThrLeuAsnGlyAspSerLeuThrSerGlnLeuThrLeuLeuGlyGlyAsnAlaArgGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515872"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1226,
          "referenceAllele": "C",
          "start": 1225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515586.2:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513888.1:p.Gln265Ter",
        "hgvsWellDefined": "XP_011513888.1:p.Gln265_Leu1154delinsValLeuGluLeuGluArgGluAsnGluMetLeuLysThrLysAsnGlnGluLeuGlnSerIleIleGlnAlaGlyLysArgSerLeuProAspSerAspLysAlaIleLeuAspIleLeuGluHisAspArgLysGluAlaLeuGluAspArgGlnGluLeuValAsnArgIleTyrAsnLeuGlnGluGluAlaArgGlnAlaGluGluLeuArgAspLysTyrLeuGluGluLysGluAspLeuGluLeuLysCysSerThrLeuGlyLysAspCysGluMetTyrLysHisArgMetAsnThrValMetLeuGlnLeuGluGluValGluArgGluArgAspGlnAlaPheHisSerArgAspGluAlaGlnThrGlnTyrSerGlnCysLeuIleGluLysAspLysTyrArgLysGlnIleArgGluLeuGluGluLysAsnAspGluMetArgIleGluMetValArgArgGluAlaCysIleValAsnLeuGluSerLysLeuArgArgLeuSerLysAspSerAsnAsnLeuAspGlnSerLeuProArgAsnLeuProValThrIleIleSerGlnAspPheGlyAspAlaSerProArgThrAsnGlyGlnGluAlaAspAspSerSerThrSerGluGluSerProGluAspSerLysTyrPheLeuProTyrHisProProGlnArgArgMetAsnLeuLysGlyIleGlnLeuGlnArgAlaLysSerProIleSerLeuLysArgThrSerAspPheGlnAlaLysGlyHisGluGluGluGlyThrAspAlaSerProSerSerCysGlySerLeuProIleThrAsnSerPheThrLysMetGlnProProArgSerArgSerSerIleMetSerIleThrAlaGluProProGlyAsnAspSerIleValArgArgTyrLysGluAspAlaProHisArgSerThrValGluGluAspAsnAspSerGlyGlyPheAspAlaLeuAspLeuAspAspAspSerHisGluArgTyrSerPheGlyProSerSerIleHisSerSerSerSerSerHisGlnSerGluGlyLeuAspAlaTyrAspLeuGluGlnValAsnLeuMetPheArgLysPheSerLeuGluArgProPheArgProSerValThrSerValGlyHisValArgGlyProGlyProSerValGlnHisThrThrLeuAsnGlyAspSerLeuThrSerGlnLeuThrLeuLeuGlyGlyAsnAlaArgGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543816"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1192,
          "referenceAllele": "C",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515587.2:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513889.1:p.Gln265Ter",
        "hgvsWellDefined": "XP_011513889.1:p.Gln265_Leu1153delinsValLeuGluLeuGluArgGluAsnGluMetLeuLysThrLysAsnGlnGluLeuGlnSerIleIleGlnAlaGlyLysArgSerLeuProAspSerAspLysAlaIleLeuAspIleLeuGluHisAspArgLysGluAlaLeuGluAspArgGlnGluLeuValAsnArgIleTyrAsnLeuGlnGluGluAlaArgGlnAlaGluGluLeuArgAspLysTyrLeuGluGluLysGluAspLeuGluLeuLysCysSerThrLeuGlyLysAspCysGluMetTyrLysHisArgMetAsnThrValMetLeuGlnLeuGluGluValGluArgGluArgAspGlnAlaPheHisSerArgAspGluAlaGlnThrGlnTyrSerGlnCysLeuIleGluLysAspLysTyrArgLysGlnIleArgGluLeuGluGluLysAsnAspGluMetArgIleGluMetValArgArgGluAlaCysIleValAsnLeuGluSerLysLeuArgArgLeuSerLysAspSerAsnAsnLeuAspGlnSerLeuProArgAsnLeuProValThrIleIleSerGlnAspPheGlyAspAlaSerProArgThrAsnGlyGlnGluAlaAspAspSerSerThrSerGluGluSerProGluAspSerLysTyrPheLeuProTyrHisProProGlnArgArgMetAsnLeuLysGlyIleGlnLeuGlnArgAlaLysSerProIleSerLeuLysArgThrSerAspPheGlnAlaLysGlyHisGluGluGluGlyThrAspAlaSerProSerSerCysGlySerLeuProIleThrAsnSerPheThrLysMetProProArgSerArgSerSerIleMetSerIleThrAlaGluProProGlyAsnAspSerIleValArgArgTyrLysGluAspAlaProHisArgSerThrValGluGluAspAsnAspSerGlyGlyPheAspAlaLeuAspLeuAspAspAspSerHisGluArgTyrSerPheGlyProSerSerIleHisSerSerSerSerSerHisGlnSerGluGlyLeuAspAlaTyrAspLeuGluGlnValAsnLeuMetPheArgLysPheSerLeuGluArgProPheArgProSerValThrSerValGlyHisValArgGlyProGlyProSerValGlnHisThrThrLeuAsnGlyAspSerLeuThrSerGlnLeuThrLeuLeuGlyGlyAsnAlaArgGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543817"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1192,
          "referenceAllele": "C",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XR_001744885.1:n.1192C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593524"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827246784",
      "coordinates": [
        {
          "allele": "T",
          "end": 1180,
          "referenceAllele": "C",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_001324281.2:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311210.1:p.Gln265Ter",
        "hgvsWellDefined": "NP_001311210.1:p.Gln265_Leu1154delinsValLeuGluLeuGluArgGluAsnGluMetLeuLysThrLysAsnGlnGluLeuGlnSerIleIleGlnAlaGlyLysArgSerLeuProAspSerAspLysAlaIleLeuAspIleLeuGluHisAspArgLysGluAlaLeuGluAspArgGlnGluLeuValAsnArgIleTyrAsnLeuGlnGluGluAlaArgGlnAlaGluGluLeuArgAspLysTyrLeuGluGluLysGluAspLeuGluLeuLysCysSerThrLeuGlyLysAspCysGluMetTyrLysHisArgMetAsnThrValMetLeuGlnLeuGluGluValGluArgGluArgAspGlnAlaPheHisSerArgAspGluAlaGlnThrGlnTyrSerGlnCysLeuIleGluLysAspLysTyrArgLysGlnIleArgGluLeuGluGluLysAsnAspGluMetArgIleGluMetValArgArgGluAlaCysIleValAsnLeuGluSerLysLeuArgArgLeuSerLysAspSerAsnAsnLeuAspGlnSerLeuProArgAsnLeuProValThrIleIleSerGlnAspPheGlyAspAlaSerProArgThrAsnGlyGlnGluAlaAspAspSerSerThrSerGluGluSerProGluAspSerLysTyrPheLeuProTyrHisProProGlnArgArgMetAsnLeuLysGlyIleGlnLeuGlnArgAlaLysSerProIleSerLeuLysArgThrSerAspPheGlnAlaLysGlyHisGluGluGluGlyThrAspAlaSerProSerSerCysGlySerLeuProIleThrAsnSerPheThrLysMetGlnProProArgSerArgSerSerIleMetSerIleThrAlaGluProProGlyAsnAspSerIleValArgArgTyrLysGluAspAlaProHisArgSerThrValGluGluAspAsnAspSerGlyGlyPheAspAlaLeuAspLeuAspAspAspSerHisGluArgTyrSerPheGlyProSerSerIleHisSerSerSerSerSerHisGlnSerGluGlyLeuAspAlaTyrAspLeuGluGlnValAsnLeuMetPheArgLysPheSerLeuGluArgProPheArgProSerValThrSerValGlyHisValArgGlyProGlyProSerValGlnHisThrThrLeuAsnGlyAspSerLeuThrSerGlnLeuThrLeuLeuGlyGlyAsnAlaArgGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686301"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499293268",
      "coordinates": [
        {
          "allele": "T",
          "end": 1119,
          "referenceAllele": "C",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_032415.6:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_115791.3:p.Gln265Ter",
        "hgvsWellDefined": "NP_115791.3:p.Gln265_Leu1154delinsValLeuGluLeuGluArgGluAsnGluMetLeuLysThrLysAsnGlnGluLeuGlnSerIleIleGlnAlaGlyLysArgSerLeuProAspSerAspLysAlaIleLeuAspIleLeuGluHisAspArgLysGluAlaLeuGluAspArgGlnGluLeuValAsnArgIleTyrAsnLeuGlnGluGluAlaArgGlnAlaGluGluLeuArgAspLysTyrLeuGluGluLysGluAspLeuGluLeuLysCysSerThrLeuGlyLysAspCysGluMetTyrLysHisArgMetAsnThrValMetLeuGlnLeuGluGluValGluArgGluArgAspGlnAlaPheHisSerArgAspGluAlaGlnThrGlnTyrSerGlnCysLeuIleGluLysAspLysTyrArgLysGlnIleArgGluLeuGluGluLysAsnAspGluMetArgIleGluMetValArgArgGluAlaCysIleValAsnLeuGluSerLysLeuArgArgLeuSerLysAspSerAsnAsnLeuAspGlnSerLeuProArgAsnLeuProValThrIleIleSerGlnAspPheGlyAspAlaSerProArgThrAsnGlyGlnGluAlaAspAspSerSerThrSerGluGluSerProGluAspSerLysTyrPheLeuProTyrHisProProGlnArgArgMetAsnLeuLysGlyIleGlnLeuGlnArgAlaLysSerProIleSerLeuLysArgThrSerAspPheGlnAlaLysGlyHisGluGluGluGlyThrAspAlaSerProSerSerCysGlySerLeuProIleThrAsnSerPheThrLysMetGlnProProArgSerArgSerSerIleMetSerIleThrAlaGluProProGlyAsnAspSerIleValArgArgTyrLysGluAspAlaProHisArgSerThrValGluGluAspAsnAspSerGlyGlyPheAspAlaLeuAspLeuAspAspAspSerHisGluArgTyrSerPheGlyProSerSerIleHisSerSerSerSerSerHisGlnSerGluGlyLeuAspAlaTyrAspLeuGluGlnValAsnLeuMetPheArgLysPheSerLeuGluArgProPheArgProSerValThrSerValGlyHisValArgGlyProGlyProSerValGlnHisThrThrLeuAsnGlyAspSerLeuThrSerGlnLeuThrLeuLeuGlyGlyAsnAlaArgGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699096"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827246784",
      "coordinates": [
        {
          "allele": "T",
          "end": 1180,
          "referenceAllele": "C",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_001324281.3:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311210.1:p.Gln265Ter",
        "hgvsWellDefined": "NP_001311210.1:p.Gln265_Leu1154delinsValLeuGluLeuGluArgGluAsnGluMetLeuLysThrLysAsnGlnGluLeuGlnSerIleIleGlnAlaGlyLysArgSerLeuProAspSerAspLysAlaIleLeuAspIleLeuGluHisAspArgLysGluAlaLeuGluAspArgGlnGluLeuValAsnArgIleTyrAsnLeuGlnGluGluAlaArgGlnAlaGluGluLeuArgAspLysTyrLeuGluGluLysGluAspLeuGluLeuLysCysSerThrLeuGlyLysAspCysGluMetTyrLysHisArgMetAsnThrValMetLeuGlnLeuGluGluValGluArgGluArgAspGlnAlaPheHisSerArgAspGluAlaGlnThrGlnTyrSerGlnCysLeuIleGluLysAspLysTyrArgLysGlnIleArgGluLeuGluGluLysAsnAspGluMetArgIleGluMetValArgArgGluAlaCysIleValAsnLeuGluSerLysLeuArgArgLeuSerLysAspSerAsnAsnLeuAspGlnSerLeuProArgAsnLeuProValThrIleIleSerGlnAspPheGlyAspAlaSerProArgThrAsnGlyGlnGluAlaAspAspSerSerThrSerGluGluSerProGluAspSerLysTyrPheLeuProTyrHisProProGlnArgArgMetAsnLeuLysGlyIleGlnLeuGlnArgAlaLysSerProIleSerLeuLysArgThrSerAspPheGlnAlaLysGlyHisGluGluGluGlyThrAspAlaSerProSerSerCysGlySerLeuProIleThrAsnSerPheThrLysMetGlnProProArgSerArgSerSerIleMetSerIleThrAlaGluProProGlyAsnAspSerIleValArgArgTyrLysGluAspAlaProHisArgSerThrValGluGluAspAsnAspSerGlyGlyPheAspAlaLeuAspLeuAspAspAspSerHisGluArgTyrSerPheGlyProSerSerIleHisSerSerSerSerSerHisGlnSerGluGlyLeuAspAlaTyrAspLeuGluGlnValAsnLeuMetPheArgLysPheSerLeuGluArgProPheArgProSerValThrSerValGlyHisValArgGlyProGlyProSerValGlnHisThrThrLeuAsnGlyAspSerLeuThrSerGlnLeuThrLeuLeuGlyGlyAsnAlaArgGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718457"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499293268",
      "coordinates": [
        {
          "allele": "T",
          "end": 1119,
          "referenceAllele": "C",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_032415.7:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_115791.3:p.Gln265Ter",
        "hgvsWellDefined": "NP_115791.3:p.Gln265_Leu1154delinsValLeuGluLeuGluArgGluAsnGluMetLeuLysThrLysAsnGlnGluLeuGlnSerIleIleGlnAlaGlyLysArgSerLeuProAspSerAspLysAlaIleLeuAspIleLeuGluHisAspArgLysGluAlaLeuGluAspArgGlnGluLeuValAsnArgIleTyrAsnLeuGlnGluGluAlaArgGlnAlaGluGluLeuArgAspLysTyrLeuGluGluLysGluAspLeuGluLeuLysCysSerThrLeuGlyLysAspCysGluMetTyrLysHisArgMetAsnThrValMetLeuGlnLeuGluGluValGluArgGluArgAspGlnAlaPheHisSerArgAspGluAlaGlnThrGlnTyrSerGlnCysLeuIleGluLysAspLysTyrArgLysGlnIleArgGluLeuGluGluLysAsnAspGluMetArgIleGluMetValArgArgGluAlaCysIleValAsnLeuGluSerLysLeuArgArgLeuSerLysAspSerAsnAsnLeuAspGlnSerLeuProArgAsnLeuProValThrIleIleSerGlnAspPheGlyAspAlaSerProArgThrAsnGlyGlnGluAlaAspAspSerSerThrSerGluGluSerProGluAspSerLysTyrPheLeuProTyrHisProProGlnArgArgMetAsnLeuLysGlyIleGlnLeuGlnArgAlaLysSerProIleSerLeuLysArgThrSerAspPheGlnAlaLysGlyHisGluGluGluGlyThrAspAlaSerProSerSerCysGlySerLeuProIleThrAsnSerPheThrLysMetGlnProProArgSerArgSerSerIleMetSerIleThrAlaGluProProGlyAsnAspSerIleValArgArgTyrLysGluAspAlaProHisArgSerThrValGluGluAspAsnAspSerGlyGlyPheAspAlaLeuAspLeuAspAspAspSerHisGluArgTyrSerPheGlyProSerSerIleHisSerSerSerSerSerHisGlnSerGluGlyLeuAspAlaTyrAspLeuGluGlnValAsnLeuMetPheArgLysPheSerLeuGluArgProPheArgProSerValThrSerValGlyHisValArgGlyProGlyProSerValGlnHisThrThrLeuAsnGlyAspSerLeuThrSerGlnLeuThrLeuLeuGlyGlyAsnAlaArgGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728832",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396946.9:c.793C>T"
          },
          "RefSeq": {
            "hgvs": "NM_032415.7:c.793C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380150.4:p.Gln265Ter"
          },
          "RefSeq": {
            "hgvs": "NP_115791.3:p.Gln265Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}