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        "hgvsWellDefined": "XP_024303426.1:p.Trp406_Met434delinsTyrAlaAsnGlyAlaAlaArgLeuThrAlaLeuArgIleLysLysThrLeuSerGlnLeuSerGlnGlnGluGlyIleLysMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581239"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075891055",
      "coordinates": [
        {
          "allele": "A",
          "end": 1518,
          "referenceAllele": "G",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_004612.4:c.1425G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004603.1:p.Trp475Ter",
        "hgvsWellDefined": "NP_004603.1:p.Trp475_Met503delinsTyrAlaAsnGlyAlaAlaArgLeuThrAlaLeuArgIleLysLysThrLeuSerGlnLeuSerGlnGlnGluGlyIleLysMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666569",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374994.9:c.1425G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004612.4:c.1425G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364133.4:p.Trp475Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004603.1:p.Trp475Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1287,
          "referenceAllele": "G",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001130916.3:c.1194G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124388.1:p.Trp398Ter",
        "hgvsWellDefined": "NP_001124388.1:p.Trp398_Met426delinsTyrAlaAsnGlyAlaAlaArgLeuThrAlaLeuArgIleLysLysThrLeuSerGlnLeuSerGlnGlnGluGlyIleLysMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1530,
          "referenceAllele": "G",
          "start": 1529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001306210.2:c.1437G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293139.1:p.Trp479Ter",
        "hgvsWellDefined": "NP_001293139.1:p.Trp479_Met507delinsTyrAlaAsnGlyAlaAlaArgLeuThrAlaLeuArgIleLysLysThrLeuSerGlnLeuSerGlnGlnGluGlyIleLysMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683870"
    }
  ],
  "type": "nucleotide"
}