{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA387852975",
  "communityStandardTitle": [
    "NM_001127217.3(SMAD9):c.204C>A (p.Cys68Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=539175[alleleid]",
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        "preferredName": "NM_001127217.3(SMAD9):c.204C>A (p.Cys68Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/548690",
        "RCV": [
          "RCV000664174",
          "RCV002508245"
        ],
        "variationId": 548690
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.37453623G>T?assembly=hg19",
        "id": "chr13:g.37453623G>T"
      }
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    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.36879486G>T?assembly=hg38",
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      }
    ],
    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/146583835",
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      }
    ]
  },
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      "chromosome": "13",
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        {
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "13",
      "coordinates": [
        {
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          "end": 37453623,
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          "start": 37453622
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      ],
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
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        }
      ],
      "hgvs": [
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      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
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          "end": 45787,
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      ],
      "hgvs": [
        "NG_016963.1:g.45787C>A",
        "LRG_703:g.45787C>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS003332"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748432"
    },
    {
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752289",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379826.5:c.204C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001127217.3:c.204C>A"
          }
        },
        "protein": {
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            "hgvs": "ENSP00000369154.4:p.Cys68Ter"
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          "RefSeq": {
            "hgvs": "NP_001120689.1:p.Cys68Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 299,
          "referenceAllele": "C",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006774",
      "geneNCBI_id": 4093,
      "geneSymbol": "SMAD9",
      "hgvs": [
        "ENST00000399275.7:c.204C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382216.3:p.Cys68Ter",
        "hgvsWellDefined": "ENSP00000382216.3:p.Cys68_Leu144delinsValThrIleProArgSerLeuAspGlyArgLeuGlnValSerHisArgLysGlyLeuProHisValIleTyrCysArgValTrpArgTrpProAspLeuGlnSerHisHisGluLeuLysProLeuGluCysCysGluPheProPheGlySerLysGlnLysGluValCysIleAsnProTyrHisTyrArgArgValGluThrProGlyAspPheAlaValIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753824"
    },
    {
      "coordinates": [
        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262664"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 547,
          "referenceAllele": "C",
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        }
      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000369154.4:p.Cys68_Ser467delinsValThrIleProArgSerLeuAspGlyArgLeuGlnValSerHisArgLysGlyLeuProHisValIleTyrCysArgValTrpArgTrpProAspLeuGlnSerHisHisGluLeuLysProLeuGluCysCysGluPheProPheGlySerLysGlnLysGluValCysIleAsnProTyrHisTyrArgArgValGluThrProValLeuProProValLeuValProArgHisSerGluTyrAsnProGlnLeuSerLeuLeuAlaLysPheArgSerAlaSerLeuHisSerGluProLeuMetProHisAsnAlaThrTyrProAspSerPheGlnGlnProProCysSerAlaLeuProProSerProSerHisAlaPheSerGlnSerProCysThrAlaSerTyrProHisSerProGlySerProSerGluProGluSerProTyrGlnHisSerValAspThrProProLeuProTyrHisAlaThrGluAlaSerGluThrGlnSerGlyGlnProValAspAlaThrAlaAspArgHisValValLeuSerIleProAsnGlyAspPheArgProValCysTyrGluGluProGlnHisTrpCysSerValAlaTyrTyrGluLeuAsnAsnArgValGlyGluThrPheGlnAlaSerSerArgSerValLeuIleAspGlyPheThrAspProSerAsnAsnArgAsnArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnSerThrIleGluAsnThrArgArgHisIleGlyLysGlyValHisLeuTyrTyrValGlyGlyGluValTyrAlaGluCysValSerAspSerSerIlePheValGlnSerArgAsnCysAsnTyrGlnHisGlyPheHisProAlaThrValCysLysIleProSerGlyCysSerLeuLysValPheAsnAsnGlnLeuPheAlaGlnLeuLeuAlaGlnSerValHisHisGlyPheGluValValTyrGluLeuThrLysMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrHisArgGlnAspValThrSerThrProCysTrpIleGluIleHisLeuHisGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProHisAsnProIleSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272662"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 344,
          "referenceAllele": "C",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006774",
      "geneNCBI_id": 4093,
      "geneSymbol": "SMAD9",
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        "hgvsWellDefined": "ENSP00000382216.2:p.Cys68_Ser467delinsValThrIleProArgSerLeuAspGlyArgLeuGlnValSerHisArgLysGlyLeuProHisValIleTyrCysArgValTrpArgTrpProAspLeuGlnSerHisHisGluLeuLysProLeuGluCysCysGluPheProPheGlySerLysGlnLysGluValCysIleAsnProTyrHisTyrArgArgValGluThrProValLeuProProValLeuValProArgHisSerGluTyrAsnProGlnLeuSerLeuLeuAlaLysPheArgSerAlaSerLeuHisSerGluProLeuMetProHisAsnAlaThrTyrProAspSerPheGlnGlnProProCysSerAlaLeuProProSerProSerHisAlaPheSerGlnSerProCysThrAlaSerTyrProHisSerProGlySerProSerGluProGluSerProTyrGlnHisSerValAspThrProProLeuProTyrHisAlaThrGluAlaSerGluThrGlnSerGlyGlnProValAspAlaThrAlaAspArgHisValValLeuSerIleProAsnGlyAspPheArgProValCysTyrGluGluProGlnHisTrpCysSerValAlaTyrTyrGluLeuAsnAsnArgValGlyGluThrPheGlnAlaSerSerArgSerValLeuIleAspGlyPheThrAspProSerAsnAsnArgAsnArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnSerThrIleGluAsnThrArgArgHisIleGlyLysGlyValHisLeuTyrTyrValGlyGlyGluValTyrAlaGluCysValSerAspSerSerIlePheValGlnSerArgAsnCysAsnTyrGlnHisGlyPheHisProAlaThrValCysLysIleProSerGlyCysSerLeuLysValPheAsnAsnGlnLeuPheAlaGlnLeuLeuAlaGlnSerValHisHisGlyPheGluValValTyrGluLeuThrLysMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrHisArgGlnAspValThrSerThrProCysTrpIleGluIleHisLeuHisGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProHisAsnProIleSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278618"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 521,
          "referenceAllele": "C",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006774",
      "geneNCBI_id": 4093,
      "geneSymbol": "SMAD9",
      "hgvs": [
        "ENST00000483941.1:n.521C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323306"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658831302",
      "coordinates": [
        {
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          "end": 547,
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          "start": 546
        }
      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011551"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916009411",
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030961"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 256,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN006774",
      "geneNCBI_id": 4093,
      "geneSymbol": "SMAD9",
      "hgvs": [
        "XM_005266401.2:c.204C>A"
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      "proteinEffect": {
        "hgvs": "XP_005266458.1:p.Cys68Ter",
        "hgvsWellDefined": "XP_005266458.1:p.Cys68_Val442delinsValThrIleProArgSerLeuAspGlyArgLeuGlnValSerHisArgLysGlyLeuProHisValIleTyrCysArgValTrpArgTrpProAspLeuGlnSerHisHisGluLeuLysProLeuGluCysCysGluPheProPheGlySerLysGlnLysGluValCysIleAsnProTyrHisTyrArgArgValGluThrProValLeuProProValLeuValProArgHisSerGluTyrAsnProGlnLeuSerLeuLeuAlaLysPheArgSerAlaSerLeuHisSerGluProLeuMetProHisAsnAlaThrTyrProAspSerPheGlnGlnProProCysSerAlaLeuProProSerProSerHisAlaPheSerGlnSerProCysThrAlaSerTyrProHisSerProGlySerProSerGluProGluSerProTyrGlnHisSerAspPheArgProValCysTyrGluGluProGlnHisTrpCysSerValAlaTyrTyrGluLeuAsnAsnArgValGlyGluThrPheGlnAlaSerSerArgSerValLeuIleAspGlyPheThrAspProSerAsnAsnArgAsnArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnSerThrIleGluAsnThrArgArgHisIleGlyLysGlyValHisLeuTyrTyrValGlyGlyGluValTyrAlaGluCysValSerAspSerSerIlePheValGlnSerArgAsnCysAsnTyrGlnHisGlyPheHisProAlaThrValCysLysIleProSerGlyCysSerLeuLysValPheAsnAsnGlnLeuPheAlaGlnLeuLeuAlaGlnSerValHisHisGlyPheGluValValTyrGluLeuThrLysMetCysThrIleArgMetSerPheValLysValAlaMetLysAlaGlyGluProArgLysPheLeuSerGlyLysGluArgGlnLeuGlyLeuTyrMetGluValLysAlaPheSerPheIleThrCysTyrPheValCysCysLysValLeuAlaAsnGluSerSerIleSerLysTyrGlyLeuIleLysValSerGlyTyrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 508,
          "referenceAllele": "C",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006774",
      "geneNCBI_id": 4093,
      "geneSymbol": "SMAD9",
      "hgvs": [
        "XM_005266403.2:c.204C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266460.1:p.Cys68Ter",
        "hgvsWellDefined": "XP_005266460.1:p.Cys68_Val393delinsValThrIleProArgSerLeuAspGlyArgLeuGlnValSerHisArgLysGlyLeuProHisValIleTyrCysArgValTrpArgTrpProAspLeuGlnSerHisHisGluLeuLysProLeuGluCysCysGluPheProPheGlySerLysGlnLysGluValCysIleAsnProTyrHisTyrArgArgValGluThrProValAspThrProProLeuProTyrHisAlaThrGluAlaSerGluThrGlnSerGlyGlnProValAspAlaThrAlaAspArgHisValValLeuSerIleProAsnGlyAspPheArgProValCysTyrGluGluProGlnHisTrpCysSerValAlaTyrTyrGluLeuAsnAsnArgValGlyGluThrPheGlnAlaSerSerArgSerValLeuIleAspGlyPheThrAspProSerAsnAsnArgAsnArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnSerThrIleGluAsnThrArgArgHisIleGlyLysGlyValHisLeuTyrTyrValGlyGlyGluValTyrAlaGluCysValSerAspSerSerIlePheValGlnSerArgAsnCysAsnTyrGlnHisGlyPheHisProAlaThrValCysLysIleProSerGlyCysSerLeuLysValPheAsnAsnGlnLeuPheAlaGlnLeuLeuAlaGlnSerValHisHisGlyPheGluValValTyrGluLeuThrLysMetCysThrIleArgMetSerPheValLysValAlaMetLysAlaGlyGluProArgLysPheLeuSerGlyLysGluArgGlnLeuGlyLeuTyrMetGluValLysAlaPheSerPheIleThrCysTyrPheValCysCysLysValLeuAlaAsnGluSerSerIleSerLysTyrGlyLeuIleLysValSerGlyTyrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065036"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 508,
          "referenceAllele": "C",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006774",
      "geneNCBI_id": 4093,
      "geneSymbol": "SMAD9",
      "hgvs": [
        "XM_005266404.2:c.204C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266461.1:p.Cys68Ter",
        "hgvsWellDefined": "XP_005266461.1:p.Cys68_Val356delinsValThrIleProArgSerLeuAspGlyArgLeuGlnValSerHisArgLysGlyLeuProHisValIleTyrCysArgValTrpArgTrpProAspLeuGlnSerHisHisGluLeuLysProLeuGluCysCysGluPheProPheGlySerLysGlnLysGluValCysIleAsnProTyrHisTyrArgArgValGluThrProAspPheArgProValCysTyrGluGluProGlnHisTrpCysSerValAlaTyrTyrGluLeuAsnAsnArgValGlyGluThrPheGlnAlaSerSerArgSerValLeuIleAspGlyPheThrAspProSerAsnAsnArgAsnArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnSerThrIleGluAsnThrArgArgHisIleGlyLysGlyValHisLeuTyrTyrValGlyGlyGluValTyrAlaGluCysValSerAspSerSerIlePheValGlnSerArgAsnCysAsnTyrGlnHisGlyPheHisProAlaThrValCysLysIleProSerGlyCysSerLeuLysValPheAsnAsnGlnLeuPheAlaGlnLeuLeuAlaGlnSerValHisHisGlyPheGluValValTyrGluLeuThrLysMetCysThrIleArgMetSerPheValLysValAlaMetLysAlaGlyGluProArgLysPheLeuSerGlyLysGluArgGlnLeuGlyLeuTyrMetGluValLysAlaPheSerPheIleThrCysTyrPheValCysCysLysValLeuAlaAsnGluSerSerIleSerLysTyrGlyLeuIleLysValSerGlyTyrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 477,
          "referenceAllele": "C",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006774",
      "geneNCBI_id": 4093,
      "geneSymbol": "SMAD9",
      "hgvs": [
        "XM_006719827.2:c.204C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719890.1:p.Cys68Ter",
        "hgvsWellDefined": "XP_006719890.1:p.Cys68_Val479delinsValThrIleProArgSerLeuAspGlyArgLeuGlnValSerHisArgLysGlyLeuProHisValIleTyrCysArgValTrpArgTrpProAspLeuGlnSerHisHisGluLeuLysProLeuGluCysCysGluPheProPheGlySerLysGlnLysGluValCysIleAsnProTyrHisTyrArgArgValGluThrProValLeuProProValLeuValProArgHisSerGluTyrAsnProGlnLeuSerLeuLeuAlaLysPheArgSerAlaSerLeuHisSerGluProLeuMetProHisAsnAlaThrTyrProAspSerPheGlnGlnProProCysSerAlaLeuProProSerProSerHisAlaPheSerGlnSerProCysThrAlaSerTyrProHisSerProGlySerProSerGluProGluSerProTyrGlnHisSerValAspThrProProLeuProTyrHisAlaThrGluAlaSerGluThrGlnSerGlyGlnProValAspAlaThrAlaAspArgHisValValLeuSerIleProAsnGlyAspPheArgProValCysTyrGluGluProGlnHisTrpCysSerValAlaTyrTyrGluLeuAsnAsnArgValGlyGluThrPheGlnAlaSerSerArgSerValLeuIleAspGlyPheThrAspProSerAsnAsnArgAsnArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnSerThrIleGluAsnThrArgArgHisIleGlyLysGlyValHisLeuTyrTyrValGlyGlyGluValTyrAlaGluCysValSerAspSerSerIlePheValGlnSerArgAsnCysAsnTyrGlnHisGlyPheHisProAlaThrValCysLysIleProSerGlyCysSerLeuLysValPheAsnAsnGlnLeuPheAlaGlnLeuLeuAlaGlnSerValHisHisGlyPheGluValValTyrGluLeuThrLysMetCysThrIleArgMetSerPheValLysValAlaMetLysAlaGlyGluProArgLysPheLeuSerGlyLysGluArgGlnLeuGlyLeuTyrMetGluValLysAlaPheSerPheIleThrCysTyrPheValCysCysLysValLeuAlaAsnGluSerSerIleSerLysTyrGlyLeuIleLysValSerGlyTyrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 256,
          "referenceAllele": "C",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006774",
      "geneNCBI_id": 4093,
      "geneSymbol": "SMAD9",
      "hgvs": [
        "XM_011535096.1:c.204C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533398.1:p.Cys68Ter",
        "hgvsWellDefined": "XP_011533398.1:p.Cys68_Asp457delinsValThrIleProArgSerLeuAspGlyArgLeuGlnValSerHisArgLysGlyLeuProHisValIleTyrCysArgValTrpArgTrpProAspLeuGlnSerHisHisGluLeuLysProLeuGluCysCysGluPheProPheGlySerLysGlnLysGluValCysIleAsnProTyrHisTyrArgArgValGluThrProValLeuProProValLeuValProArgHisSerGluTyrAsnProGlnLeuSerLeuLeuAlaLysPheArgSerAlaSerLeuHisSerGluProLeuMetProHisAsnAlaThrTyrProAspSerPheGlnGlnProProCysSerAlaLeuProProSerProSerHisAlaPheSerGlnSerProCysThrAlaSerTyrProHisSerProGlySerProSerGluProGluSerProTyrGlnHisSerValAspThrProProLeuProTyrHisAlaThrGluAlaSerGluThrGlnSerGlyGlnProValAspAlaThrAlaAspArgHisValValLeuSerIleProAsnGlyAspPheArgProValCysTyrGluGluProGlnHisTrpCysSerValAlaTyrTyrGluLeuAsnAsnArgValGlyGluThrPheGlnAlaSerSerArgSerValLeuIleAspGlyPheThrAspProSerAsnAsnArgAsnArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnSerThrIleGluAsnThrArgArgHisIleGlyLysGlyValHisLeuTyrTyrValGlyGlyGluValTyrAlaGluCysValSerAspSerSerIlePheValGlnSerArgAsnCysAsnTyrGlnHisGlyPheHisProAlaThrValCysLysIleProSerGlyCysSerLeuLysValPheAsnAsnGlnLeuPheAlaGlnLeuLeuAlaGlnSerValHisHisGlyPheGluValValTyrGluLeuThrLysMetCysThrIleArgMetSerPheValLysValValThrHisProGluProGlnAsnTrpHisLysAspTyrPheLysLeuLysThrLeuGluIleGlnLeuIleGlnLysGluAlaPheSerGluLeuProLeuSerAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102106"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 256,
          "referenceAllele": "C",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006774",
      "geneNCBI_id": 4093,
      "geneSymbol": "SMAD9",
      "hgvs": [
        "XM_005266401.3:c.204C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266458.1:p.Cys68Ter",
        "hgvsWellDefined": "XP_005266458.1:p.Cys68_Val442delinsValThrIleProArgSerLeuAspGlyArgLeuGlnValSerHisArgLysGlyLeuProHisValIleTyrCysArgValTrpArgTrpProAspLeuGlnSerHisHisGluLeuLysProLeuGluCysCysGluPheProPheGlySerLysGlnLysGluValCysIleAsnProTyrHisTyrArgArgValGluThrProValLeuProProValLeuValProArgHisSerGluTyrAsnProGlnLeuSerLeuLeuAlaLysPheArgSerAlaSerLeuHisSerGluProLeuMetProHisAsnAlaThrTyrProAspSerPheGlnGlnProProCysSerAlaLeuProProSerProSerHisAlaPheSerGlnSerProCysThrAlaSerTyrProHisSerProGlySerProSerGluProGluSerProTyrGlnHisSerAspPheArgProValCysTyrGluGluProGlnHisTrpCysSerValAlaTyrTyrGluLeuAsnAsnArgValGlyGluThrPheGlnAlaSerSerArgSerValLeuIleAspGlyPheThrAspProSerAsnAsnArgAsnArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnSerThrIleGluAsnThrArgArgHisIleGlyLysGlyValHisLeuTyrTyrValGlyGlyGluValTyrAlaGluCysValSerAspSerSerIlePheValGlnSerArgAsnCysAsnTyrGlnHisGlyPheHisProAlaThrValCysLysIleProSerGlyCysSerLeuLysValPheAsnAsnGlnLeuPheAlaGlnLeuLeuAlaGlnSerValHisHisGlyPheGluValValTyrGluLeuThrLysMetCysThrIleArgMetSerPheValLysValAlaMetLysAlaGlyGluProArgLysPheLeuSerGlyLysGluArgGlnLeuGlyLeuTyrMetGluValLysAlaPheSerPheIleThrCysTyrPheValCysCysLysValLeuAlaAsnGluSerSerIleSerLysTyrGlyLeuIleLysValSerGlyTyrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536228"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 508,
          "referenceAllele": "C",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006774",
      "geneNCBI_id": 4093,
      "geneSymbol": "SMAD9",
      "hgvs": [
        "XM_005266403.3:c.204C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266460.1:p.Cys68Ter",
        "hgvsWellDefined": "XP_005266460.1:p.Cys68_Val393delinsValThrIleProArgSerLeuAspGlyArgLeuGlnValSerHisArgLysGlyLeuProHisValIleTyrCysArgValTrpArgTrpProAspLeuGlnSerHisHisGluLeuLysProLeuGluCysCysGluPheProPheGlySerLysGlnLysGluValCysIleAsnProTyrHisTyrArgArgValGluThrProValAspThrProProLeuProTyrHisAlaThrGluAlaSerGluThrGlnSerGlyGlnProValAspAlaThrAlaAspArgHisValValLeuSerIleProAsnGlyAspPheArgProValCysTyrGluGluProGlnHisTrpCysSerValAlaTyrTyrGluLeuAsnAsnArgValGlyGluThrPheGlnAlaSerSerArgSerValLeuIleAspGlyPheThrAspProSerAsnAsnArgAsnArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnSerThrIleGluAsnThrArgArgHisIleGlyLysGlyValHisLeuTyrTyrValGlyGlyGluValTyrAlaGluCysValSerAspSerSerIlePheValGlnSerArgAsnCysAsnTyrGlnHisGlyPheHisProAlaThrValCysLysIleProSerGlyCysSerLeuLysValPheAsnAsnGlnLeuPheAlaGlnLeuLeuAlaGlnSerValHisHisGlyPheGluValValTyrGluLeuThrLysMetCysThrIleArgMetSerPheValLysValAlaMetLysAlaGlyGluProArgLysPheLeuSerGlyLysGluArgGlnLeuGlyLeuTyrMetGluValLysAlaPheSerPheIleThrCysTyrPheValCysCysLysValLeuAlaAsnGluSerSerIleSerLysTyrGlyLeuIleLysValSerGlyTyrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536229"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 508,
          "referenceAllele": "C",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006774",
      "geneNCBI_id": 4093,
      "geneSymbol": "SMAD9",
      "hgvs": [
        "XM_005266404.3:c.204C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266461.1:p.Cys68Ter",
        "hgvsWellDefined": "XP_005266461.1:p.Cys68_Val356delinsValThrIleProArgSerLeuAspGlyArgLeuGlnValSerHisArgLysGlyLeuProHisValIleTyrCysArgValTrpArgTrpProAspLeuGlnSerHisHisGluLeuLysProLeuGluCysCysGluPheProPheGlySerLysGlnLysGluValCysIleAsnProTyrHisTyrArgArgValGluThrProAspPheArgProValCysTyrGluGluProGlnHisTrpCysSerValAlaTyrTyrGluLeuAsnAsnArgValGlyGluThrPheGlnAlaSerSerArgSerValLeuIleAspGlyPheThrAspProSerAsnAsnArgAsnArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnSerThrIleGluAsnThrArgArgHisIleGlyLysGlyValHisLeuTyrTyrValGlyGlyGluValTyrAlaGluCysValSerAspSerSerIlePheValGlnSerArgAsnCysAsnTyrGlnHisGlyPheHisProAlaThrValCysLysIleProSerGlyCysSerLeuLysValPheAsnAsnGlnLeuPheAlaGlnLeuLeuAlaGlnSerValHisHisGlyPheGluValValTyrGluLeuThrLysMetCysThrIleArgMetSerPheValLysValAlaMetLysAlaGlyGluProArgLysPheLeuSerGlyLysGluArgGlnLeuGlyLeuTyrMetGluValLysAlaPheSerPheIleThrCysTyrPheValCysCysLysValLeuAlaAsnGluSerSerIleSerLysTyrGlyLeuIleLysValSerGlyTyrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536230"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 477,
          "referenceAllele": "C",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006774",
      "geneNCBI_id": 4093,
      "geneSymbol": "SMAD9",
      "hgvs": [
        "XM_006719827.3:c.204C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719890.1:p.Cys68Ter",
        "hgvsWellDefined": "XP_006719890.1:p.Cys68_Val479delinsValThrIleProArgSerLeuAspGlyArgLeuGlnValSerHisArgLysGlyLeuProHisValIleTyrCysArgValTrpArgTrpProAspLeuGlnSerHisHisGluLeuLysProLeuGluCysCysGluPheProPheGlySerLysGlnLysGluValCysIleAsnProTyrHisTyrArgArgValGluThrProValLeuProProValLeuValProArgHisSerGluTyrAsnProGlnLeuSerLeuLeuAlaLysPheArgSerAlaSerLeuHisSerGluProLeuMetProHisAsnAlaThrTyrProAspSerPheGlnGlnProProCysSerAlaLeuProProSerProSerHisAlaPheSerGlnSerProCysThrAlaSerTyrProHisSerProGlySerProSerGluProGluSerProTyrGlnHisSerValAspThrProProLeuProTyrHisAlaThrGluAlaSerGluThrGlnSerGlyGlnProValAspAlaThrAlaAspArgHisValValLeuSerIleProAsnGlyAspPheArgProValCysTyrGluGluProGlnHisTrpCysSerValAlaTyrTyrGluLeuAsnAsnArgValGlyGluThrPheGlnAlaSerSerArgSerValLeuIleAspGlyPheThrAspProSerAsnAsnArgAsnArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnSerThrIleGluAsnThrArgArgHisIleGlyLysGlyValHisLeuTyrTyrValGlyGlyGluValTyrAlaGluCysValSerAspSerSerIlePheValGlnSerArgAsnCysAsnTyrGlnHisGlyPheHisProAlaThrValCysLysIleProSerGlyCysSerLeuLysValPheAsnAsnGlnLeuPheAlaGlnLeuLeuAlaGlnSerValHisHisGlyPheGluValValTyrGluLeuThrLysMetCysThrIleArgMetSerPheValLysValAlaMetLysAlaGlyGluProArgLysPheLeuSerGlyLysGluArgGlnLeuGlyLeuTyrMetGluValLysAlaPheSerPheIleThrCysTyrPheValCysCysLysValLeuAlaAsnGluSerSerIleSerLysTyrGlyLeuIleLysValSerGlyTyrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539963"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658831302",
      "coordinates": [
        {
          "allele": "A",
          "end": 513,
          "referenceAllele": "C",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006774",
      "geneNCBI_id": 4093,
      "geneSymbol": "SMAD9",
      "hgvs": [
        "NM_001127217.3:c.204C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120689.1:p.Cys68Ter",
        "hgvsWellDefined": "NP_001120689.1:p.Cys68_Ser467delinsValThrIleProArgSerLeuAspGlyArgLeuGlnValSerHisArgLysGlyLeuProHisValIleTyrCysArgValTrpArgTrpProAspLeuGlnSerHisHisGluLeuLysProLeuGluCysCysGluPheProPheGlySerLysGlnLysGluValCysIleAsnProTyrHisTyrArgArgValGluThrProValLeuProProValLeuValProArgHisSerGluTyrAsnProGlnLeuSerLeuLeuAlaLysPheArgSerAlaSerLeuHisSerGluProLeuMetProHisAsnAlaThrTyrProAspSerPheGlnGlnProProCysSerAlaLeuProProSerProSerHisAlaPheSerGlnSerProCysThrAlaSerTyrProHisSerProGlySerProSerGluProGluSerProTyrGlnHisSerValAspThrProProLeuProTyrHisAlaThrGluAlaSerGluThrGlnSerGlyGlnProValAspAlaThrAlaAspArgHisValValLeuSerIleProAsnGlyAspPheArgProValCysTyrGluGluProGlnHisTrpCysSerValAlaTyrTyrGluLeuAsnAsnArgValGlyGluThrPheGlnAlaSerSerArgSerValLeuIleAspGlyPheThrAspProSerAsnAsnArgAsnArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnSerThrIleGluAsnThrArgArgHisIleGlyLysGlyValHisLeuTyrTyrValGlyGlyGluValTyrAlaGluCysValSerAspSerSerIlePheValGlnSerArgAsnCysAsnTyrGlnHisGlyPheHisProAlaThrValCysLysIleProSerGlyCysSerLeuLysValPheAsnAsnGlnLeuPheAlaGlnLeuLeuAlaGlnSerValHisHisGlyPheGluValValTyrGluLeuThrLysMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrHisArgGlnAspValThrSerThrProCysTrpIleGluIleHisLeuHisGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProHisAsnProIleSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676854",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379826.5:c.204C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001127217.3:c.204C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369154.4:p.Cys68Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001120689.1:p.Cys68Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916009411",
      "coordinates": [
        {
          "allele": "A",
          "end": 513,
          "referenceAllele": "C",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006774",
      "geneNCBI_id": 4093,
      "geneSymbol": "SMAD9",
      "hgvs": [
        "NM_005905.6:c.204C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005896.1:p.Cys68Ter",
        "hgvsWellDefined": "NP_005896.1:p.Cys68_Ser430delinsValThrIleProArgSerLeuAspGlyArgLeuGlnValSerHisArgLysGlyLeuProHisValIleTyrCysArgValTrpArgTrpProAspLeuGlnSerHisHisGluLeuLysProLeuGluCysCysGluPheProPheGlySerLysGlnLysGluValCysIleAsnProTyrHisTyrArgArgValGluThrProValLeuProProValLeuValProArgHisSerGluTyrAsnProGlnLeuSerLeuLeuAlaLysPheArgSerAlaSerLeuHisSerGluProLeuMetProHisAsnAlaThrTyrProAspSerPheGlnGlnProProCysSerAlaLeuProProSerProSerHisAlaPheSerGlnSerProCysThrAlaSerTyrProHisSerProGlySerProSerGluProGluSerProTyrGlnHisSerAspPheArgProValCysTyrGluGluProGlnHisTrpCysSerValAlaTyrTyrGluLeuAsnAsnArgValGlyGluThrPheGlnAlaSerSerArgSerValLeuIleAspGlyPheThrAspProSerAsnAsnArgAsnArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnSerThrIleGluAsnThrArgArgHisIleGlyLysGlyValHisLeuTyrTyrValGlyGlyGluValTyrAlaGluCysValSerAspSerSerIlePheValGlnSerArgAsnCysAsnTyrGlnHisGlyPheHisProAlaThrValCysLysIleProSerGlyCysSerLeuLysValPheAsnAsnGlnLeuPheAlaGlnLeuLeuAlaGlnSerValHisHisGlyPheGluValValTyrGluLeuThrLysMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrHisArgGlnAspValThrSerThrProCysTrpIleGluIleHisLeuHisGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProHisAsnProIleSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696556"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828788614",
      "coordinates": [
        {
          "allele": "A",
          "end": 416,
          "referenceAllele": "C",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006774",
      "geneNCBI_id": 4093,
      "geneSymbol": "SMAD9",
      "hgvs": [
        "NM_001378621.1:c.204C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365550.1:p.Cys68Ter",
        "hgvsWellDefined": "NP_001365550.1:p.Cys68_Ser430delinsValThrIleProArgSerLeuAspGlyArgLeuGlnValSerHisArgLysGlyLeuProHisValIleTyrCysArgValTrpArgTrpProAspLeuGlnSerHisHisGluLeuLysProLeuGluCysCysGluPheProPheGlySerLysGlnLysGluValCysIleAsnProTyrHisTyrArgArgValGluThrProValLeuProProValLeuValProArgHisSerGluTyrAsnProGlnLeuSerLeuLeuAlaLysPheArgSerAlaSerLeuHisSerGluProLeuMetProHisAsnAlaThrTyrProAspSerPheGlnGlnProProCysSerAlaLeuProProSerProSerHisAlaPheSerGlnSerProCysThrAlaSerTyrProHisSerProGlySerProSerGluProGluSerProTyrGlnHisSerAspPheArgProValCysTyrGluGluProGlnHisTrpCysSerValAlaTyrTyrGluLeuAsnAsnArgValGlyGluThrPheGlnAlaSerSerArgSerValLeuIleAspGlyPheThrAspProSerAsnAsnArgAsnArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnSerThrIleGluAsnThrArgArgHisIleGlyLysGlyValHisLeuTyrTyrValGlyGlyGluValTyrAlaGluCysValSerAspSerSerIlePheValGlnSerArgAsnCysAsnTyrGlnHisGlyPheHisProAlaThrValCysLysIleProSerGlyCysSerLeuLysValPheAsnAsnGlnLeuPheAlaGlnLeuLeuAlaGlnSerValHisHisGlyPheGluValValTyrGluLeuThrLysMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrHisArgGlnAspValThrSerThrProCysTrpIleGluIleHisLeuHisGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProHisAsnProIleSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721808"
    }
  ],
  "type": "nucleotide"
}