{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1619528752",
  "communityStandardTitle": [
    "NM_001286474.2(TSBP1):c.13+776T="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3129943",
        "rs": 3129943
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 32370918,
          "referenceAllele": "A",
          "start": 32370917
        }
      ],
      "hgvs": [
        "NC_000006.12:g.32370918A=",
        "CM000668.2:g.32370918A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 32338695,
          "referenceAllele": "A",
          "start": 32338694
        }
      ],
      "hgvs": [
        "NC_000006.11:g.32338695A=",
        "CM000668.1:g.32338695A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 32446673,
          "referenceAllele": "A",
          "start": 32446672
        }
      ],
      "hgvs": [
        "NC_000006.10:g.32446673A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 210,
          "endIntronDirection": "+",
          "endIntronOffset": 776,
          "referenceAllele": "T",
          "start": 210,
          "startIntronDirection": "+",
          "startIntronOffset": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013922",
      "geneNCBI_id": 10665,
      "geneSymbol": "TSBP1",
      "hgvs": [
        "ENST00000533191.6:c.13+776T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431199.1:n.13+776T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905732",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000533191.6:c.13+776T="
          },
          "RefSeq": {
            "hgvs": "NM_001286474.2:c.13+776T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000431199.1:n.13+776T="
          },
          "RefSeq": {
            "hgvs": "NP_001273403.1:n.13+776T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 186,
          "endIntronDirection": "+",
          "endIntronOffset": 776,
          "referenceAllele": "T",
          "start": 186,
          "startIntronDirection": "+",
          "startIntronOffset": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013922",
      "geneNCBI_id": 10665,
      "geneSymbol": "TSBP1",
      "hgvs": [
        "ENST00000375007.8:c.13+776T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364146.4:n.13+776T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270518"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 214,
          "endIntronDirection": "+",
          "endIntronOffset": 776,
          "referenceAllele": "T",
          "start": 214,
          "startIntronDirection": "+",
          "startIntronOffset": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013922",
      "geneNCBI_id": 10665,
      "geneSymbol": "TSBP1",
      "hgvs": [
        "ENST00000375015.8:c.13+776T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364155.4:n.13+776T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270521"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 206,
          "endIntronDirection": "+",
          "endIntronOffset": 776,
          "referenceAllele": "T",
          "start": 206,
          "startIntronDirection": "+",
          "startIntronOffset": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013922",
      "geneNCBI_id": 10665,
      "geneSymbol": "TSBP1",
      "hgvs": [
        "ENST00000442822.6:c.13+776T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411164.2:n.13+776T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297056"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 186,
          "endIntronDirection": "+",
          "endIntronOffset": 776,
          "referenceAllele": "T",
          "start": 186,
          "startIntronDirection": "+",
          "startIntronOffset": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013922",
      "geneNCBI_id": 10665,
      "geneSymbol": "TSBP1",
      "hgvs": [
        "ENST00000447241.6:c.13+776T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415517.2:n.13+776T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299133"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 179,
          "endIntronDirection": "+",
          "endIntronOffset": 776,
          "referenceAllele": "T",
          "start": 179,
          "startIntronDirection": "+",
          "startIntronOffset": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013922",
      "geneNCBI_id": 10665,
      "geneSymbol": "TSBP1",
      "hgvs": [
        "ENST00000527965.5:c.13+776T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435103.1:n.13+776T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 179,
          "endIntronDirection": "+",
          "endIntronOffset": 776,
          "referenceAllele": "T",
          "start": 179,
          "startIntronDirection": "+",
          "startIntronOffset": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013922",
      "geneNCBI_id": 10665,
      "geneSymbol": "TSBP1",
      "hgvs": [
        "ENST00000532023.5:c.13+776T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432814.1:n.13+776T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 214,
          "endIntronDirection": "+",
          "endIntronOffset": 776,
          "referenceAllele": "T",
          "start": 214,
          "startIntronDirection": "+",
          "startIntronOffset": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013922",
      "geneNCBI_id": 10665,
      "geneSymbol": "TSBP1",
      "hgvs": [
        "ENST00000533191.5:c.13+776T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431199.1:n.13+776T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 186,
          "endIntronDirection": "+",
          "endIntronOffset": 776,
          "referenceAllele": "T",
          "start": 186,
          "startIntronDirection": "+",
          "startIntronOffset": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013922",
      "geneNCBI_id": 10665,
      "geneSymbol": "TSBP1",
      "hgvs": [
        "ENST00000534588.1:c.13+776T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432566.1:n.13+776T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359178"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 219,
          "endIntronDirection": "+",
          "endIntronOffset": 776,
          "referenceAllele": "T",
          "start": 219,
          "startIntronDirection": "+",
          "startIntronOffset": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013922",
      "geneNCBI_id": 10665,
      "geneSymbol": "TSBP1",
      "hgvs": [
        "ENST00000612031.4:c.13+776T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480403.1:n.13+776T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 219,
          "endIntronDirection": "+",
          "endIntronOffset": 776,
          "referenceAllele": "T",
          "start": 219,
          "startIntronDirection": "+",
          "startIntronOffset": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013922",
      "geneNCBI_id": 10665,
      "geneSymbol": "TSBP1",
      "hgvs": [
        "ENST00000617061.4:c.13+776T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482001.1:n.13+776T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 219,
          "endIntronDirection": "+",
          "endIntronOffset": 776,
          "referenceAllele": "T",
          "start": 219,
          "startIntronDirection": "+",
          "startIntronOffset": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013922",
      "geneNCBI_id": 10665,
      "geneSymbol": "TSBP1",
      "hgvs": [
        "NM_001286474.1:c.13+776T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001273403.1:n.13+776T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022927"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 219,
          "endIntronDirection": "+",
          "endIntronOffset": 776,
          "referenceAllele": "T",
          "start": 219,
          "startIntronDirection": "+",
          "startIntronOffset": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013922",
      "geneNCBI_id": 10665,
      "geneSymbol": "TSBP1",
      "hgvs": [
        "NM_001286475.1:c.13+776T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001273404.1:n.13+776T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022928"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 219,
          "endIntronDirection": "+",
          "endIntronOffset": 776,
          "referenceAllele": "T",
          "start": 219,
          "startIntronDirection": "+",
          "startIntronOffset": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013922",
      "geneNCBI_id": 10665,
      "geneSymbol": "TSBP1",
      "hgvs": [
        "NM_006781.4:c.13+776T="
      ],
      "proteinEffect": {
        "hgvs": "NP_006772.3:n.13+776T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 420,
          "endIntronDirection": "+",
          "endIntronOffset": 776,
          "referenceAllele": "T",
          "start": 420,
          "startIntronDirection": "+",
          "startIntronOffset": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013922",
      "geneNCBI_id": 10665,
      "geneSymbol": "TSBP1",
      "hgvs": [
        "XM_011514235.1:c.13+776T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512537.1:n.13+776T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081460"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 420,
          "endIntronDirection": "+",
          "endIntronOffset": 776,
          "referenceAllele": "T",
          "start": 420,
          "startIntronDirection": "+",
          "startIntronOffset": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013922",
      "geneNCBI_id": 10665,
      "geneSymbol": "TSBP1",
      "hgvs": [
        "XM_011514236.1:c.13+776T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512538.1:n.13+776T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081461"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 421,
          "endIntronDirection": "+",
          "endIntronOffset": 776,
          "referenceAllele": "T",
          "start": 421,
          "startIntronDirection": "+",
          "startIntronOffset": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013922",
      "geneNCBI_id": 10665,
      "geneSymbol": "TSBP1",
      "hgvs": [
        "XM_011514237.1:c.13+776T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512539.1:n.13+776T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081462"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 419,
          "endIntronDirection": "+",
          "endIntronOffset": 776,
          "referenceAllele": "T",
          "start": 419,
          "startIntronDirection": "+",
          "startIntronOffset": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013922",
      "geneNCBI_id": 10665,
      "geneSymbol": "TSBP1",
      "hgvs": [
        "XM_011514238.1:c.13+776T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512540.1:n.13+776T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081463"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 421,
          "endIntronDirection": "+",
          "endIntronOffset": 776,
          "referenceAllele": "T",
          "start": 421,
          "startIntronDirection": "+",
          "startIntronOffset": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013922",
      "geneNCBI_id": 10665,
      "geneSymbol": "TSBP1",
      "hgvs": [
        "XM_011514239.1:c.13+776T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512541.1:n.13+776T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081464"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 420,
          "endIntronDirection": "+",
          "endIntronOffset": 776,
          "referenceAllele": "T",
          "start": 420,
          "startIntronDirection": "+",
          "startIntronOffset": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013922",
      "geneNCBI_id": 10665,
      "geneSymbol": "TSBP1",
      "hgvs": [
        "XM_011514240.1:c.13+776T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512542.1:n.13+776T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081465"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 418,
          "endIntronDirection": "+",
          "endIntronOffset": 776,
          "referenceAllele": "T",
          "start": 418,
          "startIntronDirection": "+",
          "startIntronOffset": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013922",
      "geneNCBI_id": 10665,
      "geneSymbol": "TSBP1",
      "hgvs": [
        "XM_011514241.1:c.13+776T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512543.1:n.13+776T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081466"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 418,
          "endIntronDirection": "+",
          "endIntronOffset": 776,
          "referenceAllele": "T",
          "start": 418,
          "startIntronDirection": "+",
          "startIntronOffset": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013922",
      "geneNCBI_id": 10665,
      "geneSymbol": "TSBP1",
      "hgvs": [
        "XM_011514242.1:c.13+776T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512544.1:n.13+776T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081467"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 418,
          "endIntronDirection": "+",
          "endIntronOffset": 776,
          "referenceAllele": "T",
          "start": 418,
          "startIntronDirection": "+",
          "startIntronOffset": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013922",
      "geneNCBI_id": 10665,
      "geneSymbol": "TSBP1",
      "hgvs": [
        "XM_011514243.1:c.13+776T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512545.1:n.13+776T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 417,
          "endIntronDirection": "+",
          "endIntronOffset": 776,
          "referenceAllele": "T",
          "start": 417,
          "startIntronDirection": "+",
          "startIntronOffset": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013922",
      "geneNCBI_id": 10665,
      "geneSymbol": "TSBP1",
      "hgvs": [
        "XM_011514244.1:c.13+776T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512546.1:n.13+776T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081469"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 418,
          "endIntronDirection": "+",
          "endIntronOffset": 776,
          "referenceAllele": "T",
          "start": 418,
          "startIntronDirection": "+",
          "startIntronOffset": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013922",
      "geneNCBI_id": 10665,
      "geneSymbol": "TSBP1",
      "hgvs": [
        "XM_011514245.1:c.13+776T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512547.1:n.13+776T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081470"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 418,
          "endIntronDirection": "+",
          "endIntronOffset": 776,
          "referenceAllele": "T",
          "start": 418,
          "startIntronDirection": "+",
          "startIntronOffset": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013922",
      "geneNCBI_id": 10665,
      "geneSymbol": "TSBP1",
      "hgvs": [
        "XM_011514246.1:c.13+776T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512548.1:n.13+776T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081471"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 483,
          "endIntronDirection": "+",
          "endIntronOffset": 5079,
          "referenceAllele": "A",
          "start": 483,
          "startIntronDirection": "+",
          "startIntronOffset": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN039756",
      "geneNCBI_id": 101929163,
      "geneSymbol": "TSBP1-AS1",
      "hgvs": [
        "XM_011515039.1:c.481+5079A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513341.1:n.481+5079A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 483,
          "endIntronDirection": "+",
          "endIntronOffset": 5079,
          "referenceAllele": "A",
          "start": 483,
          "startIntronDirection": "+",
          "startIntronOffset": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN039756",
      "geneNCBI_id": 101929163,
      "geneSymbol": "TSBP1-AS1",
      "hgvs": [
        "XM_011515040.1:c.481+5079A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513342.1:n.481+5079A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 500,
          "endIntronDirection": "+",
          "endIntronOffset": 5079,
          "referenceAllele": "A",
          "start": 500,
          "startIntronDirection": "+",
          "startIntronOffset": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN039756",
      "geneNCBI_id": 101929163,
      "geneSymbol": "TSBP1-AS1",
      "hgvs": [
        "NR_136244.1:n.500+5079A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528687"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 302,
          "endIntronDirection": "+",
          "endIntronOffset": 5079,
          "referenceAllele": "A",
          "start": 302,
          "startIntronDirection": "+",
          "startIntronOffset": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN039756",
      "geneNCBI_id": 101929163,
      "geneSymbol": "TSBP1-AS1",
      "hgvs": [
        "NR_136245.1:n.302+5079A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 211,
          "endIntronDirection": "+",
          "endIntronOffset": 776,
          "referenceAllele": "T",
          "start": 211,
          "startIntronDirection": "+",
          "startIntronOffset": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013922",
      "geneNCBI_id": 10665,
      "geneSymbol": "TSBP1",
      "hgvs": [
        "XM_024446307.1:c.13+776T="
      ],
      "proteinEffect": {
        "hgvs": "XP_024302075.1:n.13+776T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579975"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 210,
          "endIntronDirection": "+",
          "endIntronOffset": 776,
          "referenceAllele": "T",
          "start": 210,
          "startIntronDirection": "+",
          "startIntronOffset": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013922",
      "geneNCBI_id": 10665,
      "geneSymbol": "TSBP1",
      "hgvs": [
        "NM_001286474.2:c.13+776T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001273403.1:n.13+776T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682223",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000533191.6:c.13+776T="
          },
          "RefSeq": {
            "hgvs": "NM_001286474.2:c.13+776T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000431199.1:n.13+776T="
          },
          "RefSeq": {
            "hgvs": "NP_001273403.1:n.13+776T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 210,
          "endIntronDirection": "+",
          "endIntronOffset": 776,
          "referenceAllele": "T",
          "start": 210,
          "startIntronDirection": "+",
          "startIntronOffset": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013922",
      "geneNCBI_id": 10665,
      "geneSymbol": "TSBP1",
      "hgvs": [
        "NM_001286475.2:c.13+776T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001273404.1:n.13+776T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682224"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 210,
          "endIntronDirection": "+",
          "endIntronOffset": 776,
          "referenceAllele": "T",
          "start": 210,
          "startIntronDirection": "+",
          "startIntronOffset": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013922",
      "geneNCBI_id": 10665,
      "geneSymbol": "TSBP1",
      "hgvs": [
        "NM_006781.5:c.13+776T="
      ],
      "proteinEffect": {
        "hgvs": "NP_006772.3:n.13+776T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696814"
    }
  ],
  "type": "nucleotide"
}