{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA323266",
  "communityStandardTitle": [
    "NM_005902.4(SMAD3):c.82G>T (p.Glu28Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=210246[alleleid]",
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        "preferredName": "NM_005902.4(SMAD3):c.82G>T (p.Glu28Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/213779",
        "RCV": [
          "RCV000198731",
          "RCV000772179"
        ],
        "variationId": 213779
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.67358574G>T?assembly=hg19",
        "id": "chr15:g.67358574G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.67066236G>T?assembly=hg38",
        "id": "chr15:g.67066236G>T"
      }
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    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863223750",
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    ]
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        {
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "15",
      "coordinates": [
        {
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "15",
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        {
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      ],
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      "referenceGenome": "NCBI36",
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    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS002090"
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        {
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          "startIntronOffset": 2291
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS914280"
    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "NM_005902.4:c.82G>T"
          }
        },
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            "hgvs": "ENSP00000332973.4:p.Glu28Ter"
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            "hgvs": "NP_005893.1:p.Glu28Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 392,
          "referenceAllele": "G",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247289"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 182,
          "endIntronDirection": "+",
          "endIntronOffset": 2292,
          "referenceAllele": "G",
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          "startIntronDirection": "+",
          "startIntronOffset": 2291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247389"
    },
    {
      "@id": "http://reg.genome.network/allele/PA323267",
      "coordinates": [
        {
          "allele": "T",
          "end": 380,
          "referenceAllele": "G",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_005902.3:c.82G>T"
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030958"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 610,
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        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088719"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 124,
          "referenceAllele": "G",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
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      "geneSymbol": "SMAD3",
      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546202"
    },
    {
      "@id": "http://reg.genome.network/allele/PA323267",
      "coordinates": [
        {
          "allele": "T",
          "end": 635,
          "referenceAllele": "G",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_005902.4:c.82G>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_005893.1:p.Glu28_Ser425delinsLysTrpCysGluLysAlaValLysSerLeuValLysLysLeuLysLysThrGlyGlnLeuAspGluLeuGluLysAlaIleThrThrGlnAsnValAsnThrLysCysIleThrIleProArgSerLeuAspGlyArgLeuGlnValSerHisArgLysGlyLeuProHisValIleTyrCysArgLeuTrpArgTrpProAspLeuHisSerHisHisGluLeuArgAlaMetGluLeuCysGluPheAlaPheAsnMetLysLysAspGluValCysValAsnProTyrHisTyrGlnArgValGluThrProValLeuProProValLeuValProArgHisThrGluIleProAlaGluPheProProLeuAspAspTyrSerHisSerIleProGluAsnThrAsnPheProAlaGlyIleGluProGlnSerAsnIleProGluThrProProProGlyTyrLeuSerGluAspGlyGluThrSerAspHisGlnMetAsnHisSerMetAspAlaGlySerProAsnLeuSerProAsnProMetSerProAlaHisAsnAsnLeuAspLeuGlnProValThrTyrCysGluProAlaPheTrpCysSerIleSerTyrTyrGluLeuAsnGlnArgValGlyGluThrPheHisAlaSerGlnProSerMetThrValAspGlyPheThrAspProSerAsnSerGluArgPheCysLeuGlyLeuLeuSerAsnValAsnArgAsnAlaAlaValGluLeuThrArgArgHisIleGlyArgGlyValArgLeuTyrTyrIleGlyGlyGluValPheAlaGluCysLeuSerAspSerAlaIlePheValGlnSerProAsnCysAsnGlnArgTyrGlyTrpHisProAlaThrValCysLysIleProProGlyCysAsnLeuLysIlePheAsnAsnGlnGluPheAlaAlaLeuLeuAlaGlnSerValAsnGlnGlyPheGluAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667197",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327367.9:c.82G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005902.4:c.82G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332973.4:p.Glu28Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005893.1:p.Glu28Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}