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          "Ensembl": {
            "hgvs": "ENSP00000332973.4:p.Val331ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_005893.1:p.Val331ArgfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1027,
          "referenceAllele": "",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_001145102.2:c.675dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138574.1:p.Val226ArgfsTer?",
        "hgvsWellDefined": "NP_001138574.1:p.[Val226_Ile229delinsArgLeuGlnAsp;Pro231_Asn240delinsThrArgMetGlnProGluAspLeuGln;Glu242_Ser250delinsProGlyValArgCysProProGlyPro;Asn252Gly;Gln253_Gly254insPro;Phe255Leu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712751"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 864,
          "referenceAllele": "",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_001145103.2:c.858dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138575.1:p.Val287ArgfsTer?",
        "hgvsWellDefined": "NP_001138575.1:p.[Val287_Ile290delinsArgLeuGlnAsp;Pro292_Asn301delinsThrArgMetGlnProGluAspLeuGln;Glu303_Ser311delinsProGlyValArgCysProProGlyPro;Asn313Gly;Gln314_Gly315insPro;Phe316Leu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712752"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 491,
          "referenceAllele": "",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_001145104.2:c.405dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138576.1:p.Val136ArgfsTer?",
        "hgvsWellDefined": "NP_001138576.1:p.[Val136_Ile139delinsArgLeuGlnAsp;Pro141_Asn150delinsThrArgMetGlnProGluAspLeuGln;Glu152_Ser160delinsProGlyValArgCysProProGlyPro;Asn162Gly;Gln163_Gly164insPro;Phe165Leu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712753"
    }
  ],
  "type": "nucleotide"
}