{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16603523",
  "communityStandardTitle": [
    "NM_003238.6(TGFB2):c.213C>A (p.Tyr71Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=364752[alleleid]",
        "alleleId": 364752,
        "preferredName": "NM_003238.6(TGFB2):c.213C>A (p.Tyr71Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/379573",
        "RCV": [
          "RCV000428017"
        ],
        "variationId": 379573
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.218520256C>A?assembly=hg19",
        "id": "chr1:g.218520256C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.218346914C>A?assembly=hg38",
        "id": "chr1:g.218346914C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/766024374",
        "rs": 766024374
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 218346914,
          "referenceAllele": "C",
          "start": 218346913
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      ],
      "hgvs": [
        "NC_000001.11:g.218346914C>A",
        "CM000663.2:g.218346914C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
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          "end": 218520256,
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          "start": 218520255
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      ],
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        "NC_000001.10:g.218520256C>A",
        "CM000663.1:g.218520256C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
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          "end": 216586879,
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          "start": 216586878
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      ],
      "hgvs": [
        "NC_000001.9:g.216586879C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
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        }
      ],
      "hgvs": [
        "NG_027721.1:g.6581C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003929"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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        }
      ],
      "hgvs": [
        "NG_027721.2:g.6581C>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS616271"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000355897.4:p.Tyr71_Ser414delinsAsnSerThrArgAspLeuLeuGlnGluLysAlaSerArgArgAlaAlaAlaCysGluArgGluArgSerAspGluGluTyrTyrAlaLysGluValTyrLysIleAspMetProProPhePheProSerGluAsnAlaIleProProThrPheTyrArgProTyrPheArgIleValArgPheAspValSerAlaMetGluLysAsnAlaSerAsnLeuValLysAlaGluPheArgValPheArgLeuGlnAsnProLysAlaArgValProGluGlnArgIleGluLeuTyrGlnIleLeuLysSerLysAspLeuThrSerProThrGlnArgTyrIleAspSerLysValValLysThrArgAlaGluGlyGluTrpLeuSerPheAspValThrAspAlaValHisGluTrpLeuHisHisLysAspArgAsnLeuGlyPheLysIleSerLeuHisCysProCysCysThrPheValProSerAsnAsnTyrIleIleProAsnLysSerGluGluLeuGluAlaArgPheAlaGlyIleAspGlyThrSerThrTyrThrSerGlyAspGlnLysThrIleLysSerThrArgLysLysAsnSerGlyLysThrProHisLeuLeuLeuMetLeuLeuProSerTyrArgLeuGluSerGlnGlnThrAsnArgArgLysLysArgAlaLeuAspAlaAlaTyrCysPheArgAsnValGlnAspAsnCysCysLeuArgProLeuTyrIleAspPheLysArgAspLeuGlyTrpLysTrpIleHisGluProLysGlyTyrAsnAlaAsnPheCysAlaGlyAlaCysProTyrLeuTrpSerSerAspThrGlnHisSerArgValLeuSerLeuTyrAsnThrIleAsnProGluAlaSerAlaSerProCysCysValSerGlnAspLeuGluProLeuThrIleLeuTyrTyrIleGlyLysThrProLysIleGluGlnLeuSerAsnMetIleValLysSerCysLysCysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749883",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366930.9:c.213C>A"
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          "RefSeq": {
            "hgvs": "NM_003238.6:c.213C>A"
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355897.4:p.Tyr71Ter"
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            "hgvs": "NP_003229.1:p.Tyr71Ter"
          }
        }
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    {
      "coordinates": [
        {
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      ],
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      "geneSymbol": "TGFB2",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266096"
    },
    {
      "coordinates": [
        {
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      ],
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      "hgvs": [
        "ENST00000366930.8:c.213C>A"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000355897.4:p.Tyr71_Ser414delinsAsnSerThrArgAspLeuLeuGlnGluLysAlaSerArgArgAlaAlaAlaCysGluArgGluArgSerAspGluGluTyrTyrAlaLysGluValTyrLysIleAspMetProProPhePheProSerGluAsnAlaIleProProThrPheTyrArgProTyrPheArgIleValArgPheAspValSerAlaMetGluLysAsnAlaSerAsnLeuValLysAlaGluPheArgValPheArgLeuGlnAsnProLysAlaArgValProGluGlnArgIleGluLeuTyrGlnIleLeuLysSerLysAspLeuThrSerProThrGlnArgTyrIleAspSerLysValValLysThrArgAlaGluGlyGluTrpLeuSerPheAspValThrAspAlaValHisGluTrpLeuHisHisLysAspArgAsnLeuGlyPheLysIleSerLeuHisCysProCysCysThrPheValProSerAsnAsnTyrIleIleProAsnLysSerGluGluLeuGluAlaArgPheAlaGlyIleAspGlyThrSerThrTyrThrSerGlyAspGlnLysThrIleLysSerThrArgLysLysAsnSerGlyLysThrProHisLeuLeuLeuMetLeuLeuProSerTyrArgLeuGluSerGlnGlnThrAsnArgArgLysLysArgAlaLeuAspAlaAlaTyrCysPheArgAsnValGlnAspAsnCysCysLeuArgProLeuTyrIleAspPheLysArgAspLeuGlyTrpLysTrpIleHisGluProLysGlyTyrAsnAlaAsnPheCysAlaGlyAlaCysProTyrLeuTrpSerSerAspThrGlnHisSerArgValLeuSerLeuTyrAsnThrIleAsnProGluAlaSerAlaSerProCysCysValSerGlnAspLeuGluProLeuThrIleLeuTyrTyrIleGlyLysThrProLysIleGluGlnLeuSerAsnMetIleValLysSerCysLysCysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266097"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825793324",
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        {
          "allele": "A",
          "end": 1581,
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          "start": 1580
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      ],
      "gene": "http://reg.genome.network/gene/GN011768",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645400707",
      "coordinates": [
        {
          "allele": "A",
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      ],
      "gene": "http://reg.genome.network/gene/GN011768",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_003229.1:p.Tyr71_Ser414delinsAsnSerThrArgAspLeuLeuGlnGluLysAlaSerArgArgAlaAlaAlaCysGluArgGluArgSerAspGluGluTyrTyrAlaLysGluValTyrLysIleAspMetProProPhePheProSerGluAsnAlaIleProProThrPheTyrArgProTyrPheArgIleValArgPheAspValSerAlaMetGluLysAsnAlaSerAsnLeuValLysAlaGluPheArgValPheArgLeuGlnAsnProLysAlaArgValProGluGlnArgIleGluLeuTyrGlnIleLeuLysSerLysAspLeuThrSerProThrGlnArgTyrIleAspSerLysValValLysThrArgAlaGluGlyGluTrpLeuSerPheAspValThrAspAlaValHisGluTrpLeuHisHisLysAspArgAsnLeuGlyPheLysIleSerLeuHisCysProCysCysThrPheValProSerAsnAsnTyrIleIleProAsnLysSerGluGluLeuGluAlaArgPheAlaGlyIleAspGlyThrSerThrTyrThrSerGlyAspGlnLysThrIleLysSerThrArgLysLysAsnSerGlyLysThrProHisLeuLeuLeuMetLeuLeuProSerTyrArgLeuGluSerGlnGlnThrAsnArgArgLysLysArgAlaLeuAspAlaAlaTyrCysPheArgAsnValGlnAspAsnCysCysLeuArgProLeuTyrIleAspPheLysArgAspLeuGlyTrpLysTrpIleHisGluProLysGlyTyrAsnAlaAsnPheCysAlaGlyAlaCysProTyrLeuTrpSerSerAspThrGlnHisSerArgValLeuSerLeuTyrAsnThrIleAsnProGluAlaSerAlaSerProCysCysValSerGlnAspLeuGluProLeuThrIleLeuTyrTyrIleGlyLysThrProLysIleGluGlnLeuSerAsnMetIleValLysSerCysLysCysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028492"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825793324",
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        {
          "allele": "A",
          "end": 1631,
          "referenceAllele": "C",
          "start": 1630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001129071.1:p.Tyr71_Ser442delinsAsnSerThrArgAspLeuLeuGlnGluLysAlaSerArgArgAlaAlaAlaCysGluArgGluArgSerAspGluGluTyrTyrAlaLysGluValTyrLysIleAspMetProProPhePheProSerGluThrValCysProValValThrThrProSerGlySerValGlySerLeuCysSerArgGlnSerGlnValLeuCysGlyTyrLeuAspAlaIleProProThrPheTyrArgProTyrPheArgIleValArgPheAspValSerAlaMetGluLysAsnAlaSerAsnLeuValLysAlaGluPheArgValPheArgLeuGlnAsnProLysAlaArgValProGluGlnArgIleGluLeuTyrGlnIleLeuLysSerLysAspLeuThrSerProThrGlnArgTyrIleAspSerLysValValLysThrArgAlaGluGlyGluTrpLeuSerPheAspValThrAspAlaValHisGluTrpLeuHisHisLysAspArgAsnLeuGlyPheLysIleSerLeuHisCysProCysCysThrPheValProSerAsnAsnTyrIleIleProAsnLysSerGluGluLeuGluAlaArgPheAlaGlyIleAspGlyThrSerThrTyrThrSerGlyAspGlnLysThrIleLysSerThrArgLysLysAsnSerGlyLysThrProHisLeuLeuLeuMetLeuLeuProSerTyrArgLeuGluSerGlnGlnThrAsnArgArgLysLysArgAlaLeuAspAlaAlaTyrCysPheArgAsnValGlnAspAsnCysCysLeuArgProLeuTyrIleAspPheLysArgAspLeuGlyTrpLysTrpIleHisGluProLysGlyTyrAsnAlaAsnPheCysAlaGlyAlaCysProTyrLeuTrpSerSerAspThrGlnHisSerArgValLeuSerLeuTyrAsnThrIleAsnProGluAlaSerAlaSerProCysCysValSerGlnAspLeuGluProLeuThrIleLeuTyrTyrIleGlyLysThrProLysIleGluGlnLeuSerAsnMetIleValLysSerCysLysCysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511487"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645400707",
      "coordinates": [
        {
          "allele": "A",
          "end": 1631,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
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      "hgvs": [
        "NM_003238.4:c.213C>A"
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525076"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS529211"
    },
    {
      "coordinates": [
        {
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      ],
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      "hgvs": [
        "NR_138149.1:n.1631C>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS529212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645400707",
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        {
          "allele": "A",
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      ],
      "gene": "http://reg.genome.network/gene/GN011768",
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      "geneSymbol": "TGFB2",
      "hgvs": [
        "NM_003238.5:c.213C>A"
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      "proteinEffect": {
        "hgvs": "NP_003229.1:p.Tyr71Ter",
        "hgvsWellDefined": "NP_003229.1:p.Tyr71_Ser414delinsAsnSerThrArgAspLeuLeuGlnGluLysAlaSerArgArgAlaAlaAlaCysGluArgGluArgSerAspGluGluTyrTyrAlaLysGluValTyrLysIleAspMetProProPhePheProSerGluAsnAlaIleProProThrPheTyrArgProTyrPheArgIleValArgPheAspValSerAlaMetGluLysAsnAlaSerAsnLeuValLysAlaGluPheArgValPheArgLeuGlnAsnProLysAlaArgValProGluGlnArgIleGluLeuTyrGlnIleLeuLysSerLysAspLeuThrSerProThrGlnArgTyrIleAspSerLysValValLysThrArgAlaGluGlyGluTrpLeuSerPheAspValThrAspAlaValHisGluTrpLeuHisHisLysAspArgAsnLeuGlyPheLysIleSerLeuHisCysProCysCysThrPheValProSerAsnAsnTyrIleIleProAsnLysSerGluGluLeuGluAlaArgPheAlaGlyIleAspGlyThrSerThrTyrThrSerGlyAspGlnLysThrIleLysSerThrArgLysLysAsnSerGlyLysThrProHisLeuLeuLeuMetLeuLeuProSerTyrArgLeuGluSerGlnGlnThrAsnArgArgLysLysArgAlaLeuAspAlaAlaTyrCysPheArgAsnValGlnAspAsnCysCysLeuArgProLeuTyrIleAspPheLysArgAspLeuGlyTrpLysTrpIleHisGluProLysGlyTyrAsnAlaAsnPheCysAlaGlyAlaCysProTyrLeuTrpSerSerAspThrGlnHisSerArgValLeuSerLeuTyrAsnThrIleAsnProGluAlaSerAlaSerProCysCysValSerGlnAspLeuGluProLeuThrIleLeuTyrTyrIleGlyLysThrProLysIleGluGlnLeuSerAsnMetIleValLysSerCysLysCysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665943"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645400707",
      "coordinates": [
        {
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      ],
      "gene": "http://reg.genome.network/gene/GN011768",
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      "geneSymbol": "TGFB2",
      "hgvs": [
        "NM_003238.6:c.213C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003229.1:p.Tyr71Ter",
        "hgvsWellDefined": "NP_003229.1:p.Tyr71_Ser414delinsAsnSerThrArgAspLeuLeuGlnGluLysAlaSerArgArgAlaAlaAlaCysGluArgGluArgSerAspGluGluTyrTyrAlaLysGluValTyrLysIleAspMetProProPhePheProSerGluAsnAlaIleProProThrPheTyrArgProTyrPheArgIleValArgPheAspValSerAlaMetGluLysAsnAlaSerAsnLeuValLysAlaGluPheArgValPheArgLeuGlnAsnProLysAlaArgValProGluGlnArgIleGluLeuTyrGlnIleLeuLysSerLysAspLeuThrSerProThrGlnArgTyrIleAspSerLysValValLysThrArgAlaGluGlyGluTrpLeuSerPheAspValThrAspAlaValHisGluTrpLeuHisHisLysAspArgAsnLeuGlyPheLysIleSerLeuHisCysProCysCysThrPheValProSerAsnAsnTyrIleIleProAsnLysSerGluGluLeuGluAlaArgPheAlaGlyIleAspGlyThrSerThrTyrThrSerGlyAspGlnLysThrIleLysSerThrArgLysLysAsnSerGlyLysThrProHisLeuLeuLeuMetLeuLeuProSerTyrArgLeuGluSerGlnGlnThrAsnArgArgLysLysArgAlaLeuAspAlaAlaTyrCysPheArgAsnValGlnAspAsnCysCysLeuArgProLeuTyrIleAspPheLysArgAspLeuGlyTrpLysTrpIleHisGluProLysGlyTyrAsnAlaAsnPheCysAlaGlyAlaCysProTyrLeuTrpSerSerAspThrGlnHisSerArgValLeuSerLeuTyrAsnThrIleAsnProGluAlaSerAlaSerProCysCysValSerGlnAspLeuGluProLeuThrIleLeuTyrTyrIleGlyLysThrProLysIleGluGlnLeuSerAsnMetIleValLysSerCysLysCysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695762",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366930.9:c.213C>A"
          },
          "RefSeq": {
            "hgvs": "NM_003238.6:c.213C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355897.4:p.Tyr71Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003229.1:p.Tyr71Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825793324",
      "coordinates": [
        {
          "allele": "A",
          "end": 1579,
          "referenceAllele": "C",
          "start": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NM_001135599.4:c.213C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129071.1:p.Tyr71Ter",
        "hgvsWellDefined": "NP_001129071.1:p.Tyr71_Ser442delinsAsnSerThrArgAspLeuLeuGlnGluLysAlaSerArgArgAlaAlaAlaCysGluArgGluArgSerAspGluGluTyrTyrAlaLysGluValTyrLysIleAspMetProProPhePheProSerGluThrValCysProValValThrThrProSerGlySerValGlySerLeuCysSerArgGlnSerGlnValLeuCysGlyTyrLeuAspAlaIleProProThrPheTyrArgProTyrPheArgIleValArgPheAspValSerAlaMetGluLysAsnAlaSerAsnLeuValLysAlaGluPheArgValPheArgLeuGlnAsnProLysAlaArgValProGluGlnArgIleGluLeuTyrGlnIleLeuLysSerLysAspLeuThrSerProThrGlnArgTyrIleAspSerLysValValLysThrArgAlaGluGlyGluTrpLeuSerPheAspValThrAspAlaValHisGluTrpLeuHisHisLysAspArgAsnLeuGlyPheLysIleSerLeuHisCysProCysCysThrPheValProSerAsnAsnTyrIleIleProAsnLysSerGluGluLeuGluAlaArgPheAlaGlyIleAspGlyThrSerThrTyrThrSerGlyAspGlnLysThrIleLysSerThrArgLysLysAsnSerGlyLysThrProHisLeuLeuLeuMetLeuLeuProSerTyrArgLeuGluSerGlnGlnThrAsnArgArgLysLysArgAlaLeuAspAlaAlaTyrCysPheArgAsnValGlnAspAsnCysCysLeuArgProLeuTyrIleAspPheLysArgAspLeuGlyTrpLysTrpIleHisGluProLysGlyTyrAsnAlaAsnPheCysAlaGlyAlaCysProTyrLeuTrpSerSerAspThrGlnHisSerArgValLeuSerLeuTyrAsnThrIleAsnProGluAlaSerAlaSerProCysCysValSerGlnAspLeuGluProLeuThrIleLeuTyrTyrIleGlyLysThrProLysIleGluGlnLeuSerAsnMetIleValLysSerCysLysCysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712444"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1579,
          "referenceAllele": "C",
          "start": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NR_138148.2:n.1579C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731094"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1579,
          "referenceAllele": "C",
          "start": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NR_138149.2:n.1579C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731095"
    }
  ],
  "type": "nucleotide"
}