{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10587687",
  "communityStandardTitle": [
    "NM_004612.4(TGFBR1):c.1302_1303dup (p.Asp435ValfsTer8)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=258619[alleleid]",
        "alleleId": 258619,
        "preferredName": "NM_004612.4(TGFBR1):c.1302_1303dup (p.Asp435fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/263856",
        "RCV": [
          "RCV002310869"
        ],
        "variationId": 263856
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.101909982_101909983dupTG?assembly=hg19",
        "id": "chr9:g.101909982_101909983dupTG"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.99147700_99147701dupTG?assembly=hg38",
        "id": "chr9:g.99147700_99147701dupTG"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886038954",
        "rs": 886038954
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "TG",
          "end": 99147701,
          "referenceAllele": "",
          "start": 99147701
        }
      ],
      "hgvs": [
        "NC_000009.12:g.99147700_99147701dup",
        "CM000671.2:g.99147700_99147701dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "TG",
          "end": 101909983,
          "referenceAllele": "",
          "start": 101909983
        }
      ],
      "hgvs": [
        "NC_000009.11:g.101909982_101909983dup",
        "CM000671.1:g.101909982_101909983dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "TG",
          "end": 100949804,
          "referenceAllele": "",
          "start": 100949804
        }
      ],
      "hgvs": [
        "NC_000009.10:g.100949803_100949804dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 47572,
          "referenceAllele": "",
          "start": 47572
        }
      ],
      "hgvs": [
        "NG_007461.1:g.47571_47572dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000587"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1275,
          "referenceAllele": "",
          "start": 1275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000547314.6:c.1095_1096dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449934.2:p.Asp366ValfsTer8",
        "hgvsWellDefined": "ENSP00000449934.2:p.[Asp366_Ser368del;Glu370_Arg373delinsThrHisGlnLeu;Val375_Gln379del;Leu381_Leu395del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914256"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1255,
          "referenceAllele": "",
          "start": 1255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000552573.7:c.1107_1108dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447182.3:p.Asp370ValfsTer8",
        "hgvsWellDefined": "ENSP00000447182.3:p.[Asp370_Ser372del;Glu374_Arg377delinsThrHisGlnLeu;Val379_Gln383del;Leu385_Leu399del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914261"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1232,
          "referenceAllele": "",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000548365.6:c.*224_*225dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448518.2:n.*224_*225dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905821"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1203,
          "referenceAllele": "",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000549021.6:c.864_865dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449028.2:p.Asp289ValfsTer8",
        "hgvsWellDefined": "ENSP00000449028.2:p.[Asp289_Ser291del;Glu293_Arg296delinsThrHisGlnLeu;Val298_Gln302del;Leu304_Leu318del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905825"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1307,
          "referenceAllele": "",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000698941.1:c.1107_1108dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514048.1:p.Asp370ValfsTer8",
        "hgvsWellDefined": "ENSP00000514048.1:p.[Asp370_Ser372del;Glu374_Arg377delinsThrHisGlnLeu;Val379_Gln383del;Leu385_Leu399del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909886"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1311,
          "referenceAllele": "",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000698942.1:c.*1098_*1099dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514049.1:n.*1098_*1099dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909887"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 870,
          "referenceAllele": "",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000698943.1:n.869_870dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909888"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1396,
          "referenceAllele": "",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000374994.9:c.1302_1303dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364133.4:p.Asp435ValfsTer8",
        "hgvsWellDefined": "ENSP00000364133.4:p.[Asp435_Ser437del;Glu439_Arg442delinsThrHisGlnLeu;Val444_Gln448del;Leu450_Leu464del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374994.9:c.1302_1303dup"
          },
          "RefSeq": {
            "hgvs": "NM_004612.4:c.1302_1303dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364133.4:p.Asp435ValfsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_004603.1:p.Asp435ValfsTer8"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1167,
          "referenceAllele": "",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000374990.6:c.1071_1072dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364129.2:p.Asp358ValfsTer8",
        "hgvsWellDefined": "ENSP00000364129.2:p.[Asp358_Ser360del;Glu362_Arg365delinsThrHisGlnLeu;Val367_Gln371del;Leu373_Leu387del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247114"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1420,
          "referenceAllele": "",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000374994.8:c.1302_1303dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364133.4:p.Asp435ValfsTer8",
        "hgvsWellDefined": "ENSP00000364133.4:p.[Asp435_Ser437del;Glu439_Arg442delinsThrHisGlnLeu;Val444_Gln448del;Leu450_Leu464del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247264"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1246,
          "referenceAllele": "",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000549766.5:c.*37_*38dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446685.1:n.*37_*38dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367656"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1293,
          "referenceAllele": "",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000550253.1:c.1095_1096dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450052.1:p.Asp366ValfsTer8",
        "hgvsWellDefined": "ENSP00000450052.1:p.[Asp366_Ser368del;Glu370_Arg373delinsThrHisGlnLeu;Val375_Gln379del;Leu381_Leu395del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247311"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1371,
          "referenceAllele": "",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000552516.5:c.1314_1315dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447297.1:p.Asp439ValfsTer8",
        "hgvsWellDefined": "ENSP00000447297.1:p.[Asp439_Ser441del;Glu443_Arg446delinsThrHisGlnLeu;Val448_Gln452del;Leu454_Leu468del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247220"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1148,
          "referenceAllele": "",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001130916.1:c.1071_1072dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124388.1:p.Asp358ValfsTer8",
        "hgvsWellDefined": "NP_001124388.1:p.[Asp358_Ser360del;Glu362_Arg365delinsThrHisGlnLeu;Val367_Gln371del;Leu373_Leu387del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012116"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1189,
          "referenceAllele": "",
          "start": 1189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001130916.2:c.1071_1072dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124388.1:p.Asp358ValfsTer8",
        "hgvsWellDefined": "NP_001124388.1:p.[Asp358_Ser360del;Glu362_Arg365delinsThrHisGlnLeu;Val367_Gln371del;Leu373_Leu387del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012117"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1432,
          "referenceAllele": "",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001306210.1:c.1314_1315dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293139.1:p.Asp439ValfsTer8",
        "hgvsWellDefined": "NP_001293139.1:p.[Asp439_Ser441del;Glu443_Arg446delinsThrHisGlnLeu;Val448_Gln452del;Leu454_Leu468del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026033"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1379,
          "referenceAllele": "",
          "start": 1379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_004612.2:c.1302_1303dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_004603.1:p.Asp435ValfsTer8",
        "hgvsWellDefined": "NP_004603.1:p.[Asp435_Ser437del;Glu439_Arg442delinsThrHisGlnLeu;Val444_Gln448del;Leu450_Leu464del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029766"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1420,
          "referenceAllele": "",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_004612.3:c.1302_1303dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_004603.1:p.Asp435ValfsTer8",
        "hgvsWellDefined": "NP_004603.1:p.[Asp435_Ser437del;Glu439_Arg442delinsThrHisGlnLeu;Val444_Gln448del;Leu450_Leu464del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029767"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1347,
          "referenceAllele": "",
          "start": 1347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518948.1:c.1107_1108dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517250.1:p.Asp370ValfsTer8",
        "hgvsWellDefined": "XP_011517250.1:p.[Asp370_Ser372del;Glu374_Arg377delinsThrHisGlnLeu;Val379_Gln383del;Leu385_Leu399del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086122"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1275,
          "referenceAllele": "",
          "start": 1275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518949.1:c.1095_1096dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517251.1:p.Asp366ValfsTer8",
        "hgvsWellDefined": "XP_011517251.1:p.[Asp366_Ser368del;Glu370_Arg373delinsThrHisGlnLeu;Val375_Gln379del;Leu381_Leu395del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086123"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1198,
          "referenceAllele": "",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518950.1:c.864_865dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517252.1:p.Asp289ValfsTer8",
        "hgvsWellDefined": "XP_011517252.1:p.[Asp289_Ser291del;Glu293_Arg296delinsThrHisGlnLeu;Val298_Gln302del;Leu304_Leu318del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086124"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1347,
          "referenceAllele": "",
          "start": 1347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518948.2:c.1107_1108dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517250.1:p.Asp370ValfsTer8",
        "hgvsWellDefined": "XP_011517250.1:p.[Asp370_Ser372del;Glu374_Arg377delinsThrHisGlnLeu;Val379_Gln383del;Leu385_Leu399del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545149"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1275,
          "referenceAllele": "",
          "start": 1275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518949.2:c.1095_1096dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517251.1:p.Asp366ValfsTer8",
        "hgvsWellDefined": "XP_011517251.1:p.[Asp366_Ser368del;Glu370_Arg373delinsThrHisGlnLeu;Val375_Gln379del;Leu381_Leu395del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545150"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 4377,
          "referenceAllele": "",
          "start": 4377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518950.2:c.864_865dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517252.1:p.Asp289ValfsTer8",
        "hgvsWellDefined": "XP_011517252.1:p.[Asp289_Ser291del;Glu293_Arg296delinsThrHisGlnLeu;Val298_Gln302del;Leu304_Leu318del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545151"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1310,
          "referenceAllele": "",
          "start": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_017015063.1:c.1107_1108dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870552.1:p.Asp370ValfsTer8",
        "hgvsWellDefined": "XP_016870552.1:p.[Asp370_Ser372del;Glu374_Arg377delinsThrHisGlnLeu;Val379_Gln383del;Leu385_Leu399del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567899"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 4602,
          "referenceAllele": "",
          "start": 4602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_024447658.1:c.1095_1096dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303426.1:p.Asp366ValfsTer8",
        "hgvsWellDefined": "XP_024303426.1:p.[Asp366_Ser368del;Glu370_Arg373delinsThrHisGlnLeu;Val375_Gln379del;Leu381_Leu395del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581239"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1396,
          "referenceAllele": "",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_004612.4:c.1302_1303dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_004603.1:p.Asp435ValfsTer8",
        "hgvsWellDefined": "NP_004603.1:p.[Asp435_Ser437del;Glu439_Arg442delinsThrHisGlnLeu;Val444_Gln448del;Leu450_Leu464del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666569",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374994.9:c.1302_1303dup"
          },
          "RefSeq": {
            "hgvs": "NM_004612.4:c.1302_1303dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364133.4:p.Asp435ValfsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_004603.1:p.Asp435ValfsTer8"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1165,
          "referenceAllele": "",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001130916.3:c.1071_1072dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124388.1:p.Asp358ValfsTer8",
        "hgvsWellDefined": "NP_001124388.1:p.[Asp358_Ser360del;Glu362_Arg365delinsThrHisGlnLeu;Val367_Gln371del;Leu373_Leu387del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677158"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
          "end": 1408,
          "referenceAllele": "",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001306210.2:c.1314_1315dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293139.1:p.Asp439ValfsTer8",
        "hgvsWellDefined": "NP_001293139.1:p.[Asp439_Ser441del;Glu443_Arg446delinsThrHisGlnLeu;Val448_Gln452del;Leu454_Leu468del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683870"
    }
  ],
  "type": "nucleotide"
}