{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2400238365",
  "communityStandardTitle": [
    "NM_007194.4(CHEK2):c.1100C= (p.Thr367=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/555607708",
        "rs": 555607708
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/878854910",
        "rs": 878854910
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2052566665",
        "rs": 2052566665
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 28695869,
          "referenceAllele": "G",
          "start": 28695868
        }
      ],
      "hgvs": [
        "NC_000022.11:g.28695869G=",
        "CM000684.2:g.28695869G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 29091857,
          "referenceAllele": "G",
          "start": 29091856
        }
      ],
      "hgvs": [
        "NC_000022.10:g.29091857G=",
        "CM000684.1:g.29091857G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 27421857,
          "referenceAllele": "G",
          "start": 27421856
        }
      ],
      "hgvs": [
        "NC_000022.9:g.27421857G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 50966,
          "referenceAllele": "C",
          "start": 50965
        }
      ],
      "hgvs": [
        "NG_008150.1:g.50966C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000896"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 50998,
          "referenceAllele": "C",
          "start": 50997
        }
      ],
      "hgvs": [
        "NG_008150.2:g.50998C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616095"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1059,
          "endIntronDirection": "-",
          "endIntronOffset": 626,
          "referenceAllele": "C",
          "start": 1059,
          "startIntronDirection": "-",
          "startIntronOffset": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000711048.1:c.1009-627C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518557.1:n.1009-627C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 905,
          "referenceAllele": "C",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000402731.6:c.899C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384835.2:p.Thr300="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1158,
          "referenceAllele": "C",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000404276.6:c.1100C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385747.1:p.Thr367="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754083",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000404276.6:c.1100C="
          },
          "RefSeq": {
            "hgvs": "NM_007194.4:c.1100C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385747.1:p.Thr367="
          },
          "RefSeq": {
            "hgvs": "NP_009125.1:p.Thr367="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 824,
          "referenceAllele": "C",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000425190.7:c.437C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390244.2:p.Thr146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755060"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 452,
          "referenceAllele": "C",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000464581.6:c.440C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483777.2:p.Thr147="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756803"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 652,
          "referenceAllele": "C",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000648295.1:n.652C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769890"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 546,
          "referenceAllele": "C",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000649563.1:c.437C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496928.1:p.Thr146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1260,
          "referenceAllele": "C",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000650281.1:c.1100C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497000.1:p.Thr367="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771033"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1182,
          "referenceAllele": "C",
          "start": 1181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000328354.10:c.1100C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329178.6:p.Thr367="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258903"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1085,
          "referenceAllele": "C",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000348295.7:c.1013C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329012.5:p.Thr338="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262457"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1305,
          "referenceAllele": "C",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000382580.6:c.1229C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372023.2:p.Thr410="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273794"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1013,
          "referenceAllele": "C",
          "start": 1012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000402731.5:c.1013C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384835.1:p.Thr338="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279608"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 827,
          "referenceAllele": "C",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000403642.5:c.827C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384919.1:p.Thr276="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279858"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1100,
          "referenceAllele": "C",
          "start": 1099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000404276.5:c.1100C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385747.1:p.Thr367="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280032"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1292,
          "referenceAllele": "C",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000405598.5:c.1100C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386087.1:p.Thr367="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280393"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1874,
          "referenceAllele": "C",
          "start": 1873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000416671.5:c.*590C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402225.1:n.*590C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284560"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1009,
          "referenceAllele": "C",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000417588.5:c.1009C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412901.1:n.1009C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284998"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1038,
          "referenceAllele": "C",
          "start": 1037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000433728.5:c.1038C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404400.1:n.1038C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292679"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 331,
          "referenceAllele": "C",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000434810.5:c.331C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS293227"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 990,
          "referenceAllele": "C",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000448511.5:c.990C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404567.1:n.990C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299767"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 263,
          "endIntronDirection": "+",
          "endIntronOffset": 3969,
          "referenceAllele": "C",
          "start": 263,
          "startIntronDirection": "+",
          "startIntronOffset": 3968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "ENST00000456369.5:c.263+3969C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS303454"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825277256",
      "coordinates": [
        {
          "allele": "C",
          "end": 1301,
          "referenceAllele": "C",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_001005735.1:c.1229C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001005735.1:p.Thr410="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007770"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826444669",
      "coordinates": [
        {
          "allele": "C",
          "end": 1286,
          "referenceAllele": "C",
          "start": 1285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_001257387.1:c.437C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001244316.1:p.Thr146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019622"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829700114",
      "coordinates": [
        {
          "allele": "C",
          "end": 1172,
          "referenceAllele": "C",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_007194.3:c.1100C="
      ],
      "proteinEffect": {
        "hgvs": "NP_009125.1:p.Thr367="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032125"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830301792",
      "coordinates": [
        {
          "allele": "C",
          "end": 1085,
          "referenceAllele": "C",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_145862.2:c.1013C="
      ],
      "proteinEffect": {
        "hgvs": "NP_665861.1:p.Thr338="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041559"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 635,
          "referenceAllele": "C",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_006724114.2:c.620C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724177.1:p.Thr207="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075363"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 560,
          "referenceAllele": "C",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_006724116.2:c.557C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724179.2:p.Thr186="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075364"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1259,
          "referenceAllele": "C",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529839.1:c.1259C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528141.1:p.Thr420="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096898"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1208,
          "referenceAllele": "C",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529840.1:c.1172C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528142.1:p.Thr391="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096899"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1104,
          "referenceAllele": "C",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529841.1:c.1028C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528143.1:p.Thr343="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096900"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 929,
          "referenceAllele": "C",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529842.1:c.929C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528144.1:p.Thr310="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096901"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 971,
          "referenceAllele": "C",
          "start": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529843.1:c.899C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528145.1:p.Thr300="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096902"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 918,
          "referenceAllele": "C",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529845.1:c.437C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528147.1:p.Thr146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096904"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1259,
          "referenceAllele": "C",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XR_937805.1:n.1259C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1167,
          "referenceAllele": "C",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XR_937806.1:n.1167C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132608"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827476877",
      "coordinates": [
        {
          "allele": "C",
          "end": 971,
          "referenceAllele": "C",
          "start": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_001349956.1:c.899C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001336885.1:p.Thr300="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519040"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829700114",
      "coordinates": [
        {
          "allele": "C",
          "end": 1158,
          "referenceAllele": "C",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_007194.4:c.1100C="
      ],
      "proteinEffect": {
        "hgvs": "NP_009125.1:p.Thr367="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525466",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000404276.6:c.1100C="
          },
          "RefSeq": {
            "hgvs": "NM_007194.4:c.1100C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385747.1:p.Thr367="
          },
          "RefSeq": {
            "hgvs": "NP_009125.1:p.Thr367="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 815,
          "referenceAllele": "C",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_006724114.3:c.653C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724177.2:p.Thr218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540895"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1323,
          "referenceAllele": "C",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529839.2:c.1259C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528141.1:p.Thr420="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549681"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1239,
          "referenceAllele": "C",
          "start": 1238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529840.3:c.1172C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528142.1:p.Thr391="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549682"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 992,
          "referenceAllele": "C",
          "start": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529842.2:c.929C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528144.1:p.Thr310="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549683"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 879,
          "referenceAllele": "C",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_011529845.2:c.437C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528147.1:p.Thr146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549685"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1287,
          "referenceAllele": "C",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_017028560.1:c.1223C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016884049.1:p.Thr408="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578277"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 530,
          "referenceAllele": "C",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_017028561.2:c.437C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016884050.1:p.Thr146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578278"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1190,
          "referenceAllele": "C",
          "start": 1189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_024452148.1:c.1130C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024307916.1:p.Thr377="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585649"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XM_024452149.1:c.1043C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024307917.1:p.Thr348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585650"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1270,
          "referenceAllele": "C",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XR_937805.2:n.1270C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611725"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1183,
          "referenceAllele": "C",
          "start": 1182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "XR_937806.2:n.1183C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611726"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825277256",
      "coordinates": [
        {
          "allele": "C",
          "end": 1287,
          "referenceAllele": "C",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_001005735.2:c.1229C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001005735.1:p.Thr410="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675207"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826444669",
      "coordinates": [
        {
          "allele": "C",
          "end": 1272,
          "referenceAllele": "C",
          "start": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_001257387.2:c.437C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001244316.1:p.Thr146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680730"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827476877",
      "coordinates": [
        {
          "allele": "C",
          "end": 957,
          "referenceAllele": "C",
          "start": 956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016627",
      "geneNCBI_id": 11200,
      "geneSymbol": "CHEK2",
      "hgvs": [
        "NM_001349956.2:c.899C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001336885.1:p.Thr300="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688142"
    }
  ],
  "type": "nucleotide"
}