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        "hgvsWellDefined": "XP_011519862.1:p.Glu312_Ser376delinsAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088720"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 991,
          "referenceAllele": "G",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "XM_011521559.3:c.949G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519861.1:p.Glu317Ter",
        "hgvsWellDefined": "XP_011519861.1:p.Glu317_Ser381delinsAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546202"
    },
    {
      "@id": "http://reg.genome.network/allele/PA281757",
      "coordinates": [
        {
          "allele": "T",
          "end": 1634,
          "referenceAllele": "G",
          "start": 1633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_005902.4:c.1081G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005893.1:p.Glu361Ter",
        "hgvsWellDefined": "NP_005893.1:p.Glu361_Ser425delinsAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667197",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327367.9:c.1081G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005902.4:c.1081G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332973.4:p.Glu361Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005893.1:p.Glu361Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825880994",
      "coordinates": [
        {
          "allele": "T",
          "end": 1118,
          "referenceAllele": "G",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_001145102.2:c.766G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138574.1:p.Glu256Ter",
        "hgvsWellDefined": "NP_001138574.1:p.Glu256_Ser320delinsAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712751"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825881458",
      "coordinates": [
        {
          "allele": "T",
          "end": 955,
          "referenceAllele": "G",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_001145103.2:c.949G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138575.1:p.Glu317Ter",
        "hgvsWellDefined": "NP_001138575.1:p.Glu317_Ser381delinsAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712752"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825881727",
      "coordinates": [
        {
          "allele": "T",
          "end": 582,
          "referenceAllele": "G",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_001145104.2:c.496G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138576.1:p.Glu166Ter",
        "hgvsWellDefined": "NP_001138576.1:p.Glu166_Ser230delinsAlaValTyrGlnLeuThrArgMetCysThrIleArgMetSerPheValLysGlyTrpGlyAlaGluTyrArgArgGlnThrValThrSerThrProCysTrpIleGluLeuHisLeuAsnGlyProLeuGlnTrpLeuAspLysValLeuThrGlnMetGlySerProSerIleArgCysSerSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712753"
    }
  ],
  "type": "nucleotide"
}