{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2425440753",
  "communityStandardTitle": [
    "NM_001123385.2(BCOR):c.4111C= (p.Gln1371=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863224850",
        "rs": 863224850
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 40062808,
          "referenceAllele": "G",
          "start": 40062807
        }
      ],
      "hgvs": [
        "NC_000023.11:g.40062808G=",
        "CM000685.2:g.40062808G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 39922061,
          "referenceAllele": "G",
          "start": 39922060
        }
      ],
      "hgvs": [
        "NC_000023.10:g.39922061G=",
        "CM000685.1:g.39922061G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 39807005,
          "referenceAllele": "G",
          "start": 39807004
        }
      ],
      "hgvs": [
        "NC_000023.9:g.39807005G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 119522,
          "referenceAllele": "C",
          "start": 119521
        }
      ],
      "hgvs": [
        "NG_008880.1:g.119522C=",
        "LRG_627:g.119522C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001275"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4895,
          "referenceAllele": "C",
          "start": 4894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000378444.9:c.4111C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367705.4:p.Gln1371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752084",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378444.9:c.4111C="
          },
          "RefSeq": {
            "hgvs": "NM_001123385.2:c.4111C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367705.4:p.Gln1371="
          },
          "RefSeq": {
            "hgvs": "NP_001116857.1:p.Gln1371="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4200,
          "referenceAllele": "C",
          "start": 4199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000406200.4:c.4111C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384485.3:p.Gln1371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754145"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4009,
          "referenceAllele": "C",
          "start": 4008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000413905.6:c.4009C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408006.2:p.Gln1337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754554"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4057,
          "referenceAllele": "C",
          "start": 4056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000427012.3:c.4057C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403823.3:p.Gln1353="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755157"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4111,
          "referenceAllele": "C",
          "start": 4110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000442018.6:c.4111C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387552.2:p.Gln1371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755879"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4347,
          "referenceAllele": "C",
          "start": 4346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000615339.2:c.4111C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483217.2:p.Gln1371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4358,
          "referenceAllele": "C",
          "start": 4357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000672922.2:c.4111C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499892.2:p.Gln1371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773543"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4202,
          "referenceAllele": "C",
          "start": 4201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000673391.1:c.4009C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500446.1:p.Gln1337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773665"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4548,
          "referenceAllele": "C",
          "start": 4547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000679513.1:c.4111C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505761.1:p.Gln1371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779144"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4432,
          "referenceAllele": "C",
          "start": 4431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000680831.1:c.4111C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505507.1:p.Gln1371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780446"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4372,
          "referenceAllele": "C",
          "start": 4371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000342274.8:c.4009C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345923.4:p.Gln1337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261518"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4340,
          "referenceAllele": "C",
          "start": 4339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000378444.8:c.4111C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367705.4:p.Gln1371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272033"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4318,
          "referenceAllele": "C",
          "start": 4317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000378455.8:c.3955C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367716.4:p.Gln1319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272038"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 900,
          "referenceAllele": "C",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000378463.5:c.640C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367724.1:p.Gln214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272043"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4238,
          "referenceAllele": "C",
          "start": 4237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000397354.7:c.4009C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380512.3:p.Gln1337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277757"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 721,
          "referenceAllele": "C",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000413905.5:c.721C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408006.1:p.Gln241="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283287"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 195,
          "referenceAllele": "C",
          "start": 194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000427012.1:c.195C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS289497"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 130,
          "referenceAllele": "C",
          "start": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "ENST00000442018.5:c.130C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387552.1:p.Gln44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296683"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4372,
          "referenceAllele": "C",
          "start": 4371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "NM_001123383.1:c.4009C=",
        "LRG_627t1:c.4009C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001116855.1:p.Gln1337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011455"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4318,
          "referenceAllele": "C",
          "start": 4317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "NM_001123384.1:c.3955C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001116856.1:p.Gln1319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011456"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4403,
          "referenceAllele": "C",
          "start": 4402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "NM_001123385.1:c.4111C=",
        "LRG_627t2:c.4111C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001116857.1:p.Gln1371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011457"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063391762",
      "coordinates": [
        {
          "allele": "C",
          "end": 4301,
          "referenceAllele": "C",
          "start": 4300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "NM_017745.5:c.4009C="
      ],
      "proteinEffect": {
        "hgvs": "NP_060215.4:p.Gln1337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035153"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4535,
          "referenceAllele": "C",
          "start": 4534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_005272616.1:c.4111C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005272673.1:p.Gln1371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067310"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4195,
          "referenceAllele": "C",
          "start": 4194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_005272618.2:c.4111C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005272675.1:p.Gln1371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067311"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4807,
          "referenceAllele": "C",
          "start": 4806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_005272619.3:c.4057C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005272676.1:p.Gln1353="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067312"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4705,
          "referenceAllele": "C",
          "start": 4704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_005272620.3:c.3955C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005272677.1:p.Gln1319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067313"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4243,
          "referenceAllele": "C",
          "start": 4242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_006724536.2:c.4111C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724599.1:p.Gln1371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075568"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4323,
          "referenceAllele": "C",
          "start": 4322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_011543929.1:c.4111C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542231.1:p.Gln1371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110842"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4324,
          "referenceAllele": "C",
          "start": 4323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_011543930.1:c.4111C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542232.1:p.Gln1371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110843"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4204,
          "referenceAllele": "C",
          "start": 4203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_011543931.1:c.4111C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542233.1:p.Gln1371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110844"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4201,
          "referenceAllele": "C",
          "start": 4200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_005272618.3:c.4111C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005272675.1:p.Gln1371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537331"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4148,
          "referenceAllele": "C",
          "start": 4147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_005272619.4:c.4057C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005272676.1:p.Gln1353="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537332"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4046,
          "referenceAllele": "C",
          "start": 4045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_005272620.4:c.3955C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005272677.1:p.Gln1319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537333"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5637,
          "referenceAllele": "C",
          "start": 5636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_006724536.3:c.4111C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724599.1:p.Gln1371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540999"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4311,
          "referenceAllele": "C",
          "start": 4310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_011543929.2:c.4111C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542231.1:p.Gln1371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555431"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4434,
          "referenceAllele": "C",
          "start": 4433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_011543931.2:c.4111C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542233.1:p.Gln1371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555432"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5535,
          "referenceAllele": "C",
          "start": 5534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_017029615.1:c.4009C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016885104.1:p.Gln1337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579131"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4202,
          "referenceAllele": "C",
          "start": 4201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "XM_017029616.2:c.4111C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016885105.1:p.Gln1371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579132"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4266,
          "referenceAllele": "C",
          "start": 4265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "NM_001123384.2:c.3955C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001116856.1:p.Gln1319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676808"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4895,
          "referenceAllele": "C",
          "start": 4894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "NM_001123385.2:c.4111C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001116857.1:p.Gln1371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378444.9:c.4111C="
          },
          "RefSeq": {
            "hgvs": "NM_001123385.2:c.4111C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367705.4:p.Gln1371="
          },
          "RefSeq": {
            "hgvs": "NP_001116857.1:p.Gln1371="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063391762",
      "coordinates": [
        {
          "allele": "C",
          "end": 4793,
          "referenceAllele": "C",
          "start": 4792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020893",
      "geneNCBI_id": 54880,
      "geneSymbol": "BCOR",
      "hgvs": [
        "NM_017745.6:c.4009C="
      ],
      "proteinEffect": {
        "hgvs": "NP_060215.4:p.Gln1337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697865"
    }
  ],
  "type": "nucleotide"
}