{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA366643765",
  "communityStandardTitle": [
    "NM_032415.7(CARD11):c.1893C>G (p.Tyr631Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3106875[alleleid]",
        "alleleId": 3106875,
        "preferredName": "NM_032415.7(CARD11):c.1893C>G (p.Tyr631Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2941343",
        "RCV": [
          "RCV003795045"
        ],
        "variationId": 2941343
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.2963914G>C?assembly=hg19",
        "id": "chr7:g.2963914G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.2924280G>C?assembly=hg38",
        "id": "chr7:g.2924280G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/771051299",
        "rs": 771051299
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 2924280,
          "referenceAllele": "G",
          "start": 2924279
        }
      ],
      "hgvs": [
        "NC_000007.14:g.2924280G>C",
        "CM000669.2:g.2924280G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 2963914,
          "referenceAllele": "G",
          "start": 2963913
        }
      ],
      "hgvs": [
        "NC_000007.13:g.2963914G>C",
        "CM000669.1:g.2963914G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 2930440,
          "referenceAllele": "G",
          "start": 2930439
        }
      ],
      "hgvs": [
        "NC_000007.12:g.2930440G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 124596,
          "referenceAllele": "C",
          "start": 124595
        }
      ],
      "hgvs": [
        "NG_027759.1:g.124596C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003960"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2219,
          "referenceAllele": "C",
          "start": 2218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000698637.1:n.2219C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909592"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2219,
          "referenceAllele": "C",
          "start": 2218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000396946.9:c.1893C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380150.4:p.Tyr631Ter",
        "hgvsWellDefined": "ENSP00000380150.4:p.Tyr631_Leu1154delinsAspLeuGluGlnValAsnLeuMetPheArgLysPheSerLeuGluArgProPheArgProSerValThrSerValGlyHisValArgGlyProGlyProSerValGlnHisThrThrLeuAsnGlyAspSerLeuThrSerGlnLeuThrLeuLeuGlyGlyAsnAlaArgGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753581",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396946.9:c.1893C>G"
          },
          "RefSeq": {
            "hgvs": "NM_032415.7:c.1893C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380150.4:p.Tyr631Ter"
          },
          "RefSeq": {
            "hgvs": "NP_115791.3:p.Tyr631Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 306,
          "referenceAllele": "C",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000355508.3:c.306C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347695.3:p.Tyr102Ter",
        "hgvsWellDefined": "ENSP00000347695.3:p.Tyr102_Val272del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263455"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2297,
          "referenceAllele": "C",
          "start": 2296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000396946.8:c.1893C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380150.4:p.Tyr631Ter",
        "hgvsWellDefined": "ENSP00000380150.4:p.Tyr631_Leu1154delinsAspLeuGluGlnValAsnLeuMetPheArgLysPheSerLeuGluArgProPheArgProSerValThrSerValGlyHisValArgGlyProGlyProSerValGlnHisThrThrLeuAsnGlyAspSerLeuThrSerGlnLeuThrLeuLeuGlyGlyAsnAlaArgGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277510"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741992904",
      "coordinates": [
        {
          "allele": "G",
          "end": 2297,
          "referenceAllele": "C",
          "start": 2296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_032415.5:c.1893C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_115791.3:p.Tyr631Ter",
        "hgvsWellDefined": "NP_115791.3:p.Tyr631_Leu1154delinsAspLeuGluGlnValAsnLeuMetPheArgLysPheSerLeuGluArgProPheArgProSerValThrSerValGlyHisValArgGlyProGlyProSerValGlnHisThrThrLeuAsnGlyAspSerLeuThrSerGlnLeuThrLeuLeuGlyGlyAsnAlaArgGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039067"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2291,
          "referenceAllele": "C",
          "start": 2290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515585.1:c.1893C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513887.1:p.Tyr631Ter",
        "hgvsWellDefined": "XP_011513887.1:p.Tyr631_Leu1154delinsAspLeuGluGlnValAsnLeuMetPheArgLysPheSerLeuGluArgProPheArgProSerValThrSerValGlyHisValArgGlyProGlyProSerValGlnHisThrThrLeuAsnGlyAspSerLeuThrSerGlnLeuThrLeuLeuGlyGlyAsnAlaArgGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082805"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2295,
          "referenceAllele": "C",
          "start": 2294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515586.1:c.1893C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513888.1:p.Tyr631Ter",
        "hgvsWellDefined": "XP_011513888.1:p.Tyr631_Leu1154delinsAspLeuGluGlnValAsnLeuMetPheArgLysPheSerLeuGluArgProPheArgProSerValThrSerValGlyHisValArgGlyProGlyProSerValGlnHisThrThrLeuAsnGlyAspSerLeuThrSerGlnLeuThrLeuLeuGlyGlyAsnAlaArgGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082806"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2289,
          "referenceAllele": "C",
          "start": 2288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515587.1:c.1890C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513889.1:p.Tyr630Ter",
        "hgvsWellDefined": "XP_011513889.1:p.Tyr630_Leu1153delinsAspLeuGluGlnValAsnLeuMetPheArgLysPheSerLeuGluArgProPheArgProSerValThrSerValGlyHisValArgGlyProGlyProSerValGlnHisThrThrLeuAsnGlyAspSerLeuThrSerGlnLeuThrLeuLeuGlyGlyAsnAlaArgGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082807"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827246997",
      "coordinates": [
        {
          "allele": "G",
          "end": 2358,
          "referenceAllele": "C",
          "start": 2357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_001324281.1:c.1893C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311210.1:p.Tyr631Ter",
        "hgvsWellDefined": "NP_001311210.1:p.Tyr631_Leu1154delinsAspLeuGluGlnValAsnLeuMetPheArgLysPheSerLeuGluArgProPheArgProSerValThrSerValGlyHisValArgGlyProGlyProSerValGlnHisThrThrLeuAsnGlyAspSerLeuThrSerGlnLeuThrLeuLeuGlyGlyAsnAlaArgGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515872"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2326,
          "referenceAllele": "C",
          "start": 2325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515586.2:c.1893C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513888.1:p.Tyr631Ter",
        "hgvsWellDefined": "XP_011513888.1:p.Tyr631_Leu1154delinsAspLeuGluGlnValAsnLeuMetPheArgLysPheSerLeuGluArgProPheArgProSerValThrSerValGlyHisValArgGlyProGlyProSerValGlnHisThrThrLeuAsnGlyAspSerLeuThrSerGlnLeuThrLeuLeuGlyGlyAsnAlaArgGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543816"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2289,
          "referenceAllele": "C",
          "start": 2288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515587.2:c.1890C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513889.1:p.Tyr630Ter",
        "hgvsWellDefined": "XP_011513889.1:p.Tyr630_Leu1153delinsAspLeuGluGlnValAsnLeuMetPheArgLysPheSerLeuGluArgProPheArgProSerValThrSerValGlyHisValArgGlyProGlyProSerValGlnHisThrThrLeuAsnGlyAspSerLeuThrSerGlnLeuThrLeuLeuGlyGlyAsnAlaArgGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543817"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2292,
          "referenceAllele": "C",
          "start": 2291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XR_001744885.1:n.2292C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593524"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827246997",
      "coordinates": [
        {
          "allele": "G",
          "end": 2280,
          "referenceAllele": "C",
          "start": 2279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_001324281.2:c.1893C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311210.1:p.Tyr631Ter",
        "hgvsWellDefined": "NP_001311210.1:p.Tyr631_Leu1154delinsAspLeuGluGlnValAsnLeuMetPheArgLysPheSerLeuGluArgProPheArgProSerValThrSerValGlyHisValArgGlyProGlyProSerValGlnHisThrThrLeuAsnGlyAspSerLeuThrSerGlnLeuThrLeuLeuGlyGlyAsnAlaArgGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686301"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741992904",
      "coordinates": [
        {
          "allele": "G",
          "end": 2219,
          "referenceAllele": "C",
          "start": 2218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_032415.6:c.1893C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_115791.3:p.Tyr631Ter",
        "hgvsWellDefined": "NP_115791.3:p.Tyr631_Leu1154delinsAspLeuGluGlnValAsnLeuMetPheArgLysPheSerLeuGluArgProPheArgProSerValThrSerValGlyHisValArgGlyProGlyProSerValGlnHisThrThrLeuAsnGlyAspSerLeuThrSerGlnLeuThrLeuLeuGlyGlyAsnAlaArgGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699096"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827246997",
      "coordinates": [
        {
          "allele": "G",
          "end": 2280,
          "referenceAllele": "C",
          "start": 2279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_001324281.3:c.1893C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311210.1:p.Tyr631Ter",
        "hgvsWellDefined": "NP_001311210.1:p.Tyr631_Leu1154delinsAspLeuGluGlnValAsnLeuMetPheArgLysPheSerLeuGluArgProPheArgProSerValThrSerValGlyHisValArgGlyProGlyProSerValGlnHisThrThrLeuAsnGlyAspSerLeuThrSerGlnLeuThrLeuLeuGlyGlyAsnAlaArgGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718457"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741992904",
      "coordinates": [
        {
          "allele": "G",
          "end": 2219,
          "referenceAllele": "C",
          "start": 2218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_032415.7:c.1893C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_115791.3:p.Tyr631Ter",
        "hgvsWellDefined": "NP_115791.3:p.Tyr631_Leu1154delinsAspLeuGluGlnValAsnLeuMetPheArgLysPheSerLeuGluArgProPheArgProSerValThrSerValGlyHisValArgGlyProGlyProSerValGlnHisThrThrLeuAsnGlyAspSerLeuThrSerGlnLeuThrLeuLeuGlyGlyAsnAlaArgGlySerPheValHisSerValLysProGlySerLeuAlaGluLysAlaGlyLeuArgGluGlyHisGlnLeuLeuLeuLeuGluGlyCysIleArgGlyGluArgGlnSerValProLeuAspThrCysThrLysGluGluAlaHisTrpThrIleGlnArgCysSerGlyProValThrLeuHisTyrLysValAsnHisGluGlyTyrArgLysLeuValLysAspMetGluAspGlyLeuIleThrSerGlyAspSerPheTyrIleArgLeuAsnLeuAsnIleSerSerGlnLeuAspAlaCysThrMetSerLeuLysCysAspAspValValHisValArgAspThrMetTyrGlnAspArgHisGluTrpLeuCysAlaArgValAspProPheThrAspHisAspLeuAspMetGlyThrIleProSerTyrSerArgAlaGlnGlnLeuLeuLeuValLysLeuGlnArgLeuMetHisArgGlySerArgGluGluValAspGlyThrHisHisThrLeuArgAlaLeuArgAsnThrLeuGlnProGluGluAlaLeuSerThrSerAspProArgValSerProArgLeuSerArgAlaSerPheLeuPheGlyGlnLeuLeuGlnPheValSerArgSerGluAsnLysTyrLysArgMetAsnSerAsnGluArgValArgIleIleSerGlySerProLeuGlySerLeuAlaArgSerSerLeuAspAlaThrLysLeuLeuThrGluLysGlnGluGluLeuAspProGluSerGluLeuGlyLysAsnLeuSerLeuIleProTyrSerLeuValArgAlaPheTyrCysGluArgArgArgProValLeuPheThrProThrValLeuAlaLysThrLeuValGlnArgLeuLeuAsnSerGlyGlyAlaMetGluPheThrIleCysLysSerAspIleValThrArgAspGluPheLeuArgArgGlnLysThrGluThrIleIleTyrSerArgGluLysAsnProAsnAlaPheGluCysIleAlaProAlaAsnIleGluAlaValAlaAlaLysAsnLysHisCysLeuLeuGluAlaGlyIleGlyCysThrArgAspLeuIleLysSerAsnIleTyrProIleValLeuPheIleArgValCysGluLysAsnIleLysArgPheArgLysLeuLeuProArgProGluThrGluGluGluPheLeuArgValCysArgLeuLysGluLysGluLeuGluAlaLeuProCysLeuTyrAlaThrValGluProAspMetTrpGlySerValGluGluLeuLeuArgValValLysAspLysIleGlyGluGluGlnArgLysThrIleTrpValAspGluAspGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728832",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396946.9:c.1893C>G"
          },
          "RefSeq": {
            "hgvs": "NM_032415.7:c.1893C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380150.4:p.Tyr631Ter"
          },
          "RefSeq": {
            "hgvs": "NP_115791.3:p.Tyr631Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}