{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA206553",
  "communityStandardTitle": [
    "NM_001374828.1(ARID1B):c.2379T>C (p.His793=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=207364[alleleid]",
        "alleleId": 207364,
        "preferredName": "NM_001374828.1(ARID1B):c.2379T>C (p.His793=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/210276",
        "RCV": [
          "RCV000193218",
          "RCV001668359",
          "RCV001807123",
          "RCV004530100"
        ],
        "variationId": 210276
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-157405927-T-C",
        "id": "6-157405927-T-C",
        "variant": "6:157405927 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.157405927T>C?assembly=hg19",
        "id": "chr6:g.157405927T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.157084793T>C?assembly=hg38",
        "id": "chr6:g.157084793T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/370364530",
        "rs": 370364530
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-157405927-T-C?dataset=gnomad_r2_1",
        "id": "6-157405927-T-C",
        "variant": "6:157405927 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-157084793-T-C?dataset=gnomad_r3",
        "id": "6-157084793-T-C",
        "variant": "6:157084793 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-157084793-T-C?dataset=gnomad_r4",
        "id": "6-157084793-T-C",
        "variant": "6:157084793 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 157084793,
          "referenceAllele": "T",
          "start": 157084792
        }
      ],
      "hgvs": [
        "NC_000006.12:g.157084793T>C",
        "CM000668.2:g.157084793T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 157405927,
          "referenceAllele": "T",
          "start": 157405926
        }
      ],
      "hgvs": [
        "NC_000006.11:g.157405927T>C",
        "CM000668.1:g.157405927T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 157447619,
          "referenceAllele": "T",
          "start": 157447618
        }
      ],
      "hgvs": [
        "NC_000006.10:g.157447619T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 311864,
          "referenceAllele": "T",
          "start": 311863
        }
      ],
      "hgvs": [
        "NG_032093.1:g.311864T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005122"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 311864,
          "referenceAllele": "T",
          "start": 311863
        }
      ],
      "hgvs": [
        "NG_032093.2:g.311864T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616333"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 313768,
          "referenceAllele": "T",
          "start": 313767
        }
      ],
      "hgvs": [
        "NG_066624.1:g.313768T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706193"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2379,
          "referenceAllele": "T",
          "start": 2378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000350026.11:c.2379T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000055163.8:p.His793="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913972"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2379,
          "referenceAllele": "T",
          "start": 2378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000414678.8:c.2379T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412835.3:p.His793="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914032"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2379,
          "referenceAllele": "T",
          "start": 2378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000637015.2:c.2379T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489729.2:p.His793="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906363"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 393,
          "referenceAllele": "T",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000319584.11:c.393T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313006.7:p.His131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746306"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3344,
          "referenceAllele": "T",
          "start": 3343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000346085.10:c.2418T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344546.5:p.His806="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2130,
          "referenceAllele": "T",
          "start": 2129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000350026.10:c.2130T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000055163.7:p.His710="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748423"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 627,
          "referenceAllele": "T",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000414678.7:c.627T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412835.2:p.His209="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754582"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 280,
          "referenceAllele": "T",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000452544.2:n.280T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756387"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 28,
          "referenceAllele": "T",
          "start": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000493658.2:n.28T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757744"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 467,
          "referenceAllele": "T",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000635849.1:c.-121T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490948.1:n.-121T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762681"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2682,
          "referenceAllele": "T",
          "start": 2681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000636930.2:c.2379T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490491.2:p.His793="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763484",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000636930.2:c.2379T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001374828.1:c.2379T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490491.2:p.His793="
          },
          "RefSeq": {
            "hgvs": "NP_001361757.1:p.His793="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 243,
          "referenceAllele": "T",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000637003.1:c.-121T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489666.1:n.-121T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763539"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 22,
          "referenceAllele": "T",
          "start": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000637810.1:c.-121T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489636.1:n.-121T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764126"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 381,
          "referenceAllele": "T",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000637904.1:c.-121T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490550.1:n.-121T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764197"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2169,
          "referenceAllele": "T",
          "start": 2168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000647938.1:c.2169T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498155.1:p.His723="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769702"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1128,
          "referenceAllele": "T",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000674190.1:n.1128T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774202"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 396,
          "referenceAllele": "T",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000319584.10:c.396T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313006.6:p.His132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257695"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2725,
          "referenceAllele": "T",
          "start": 2724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000346085.9:c.2169T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344546.4:p.His723="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262224"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2131,
          "referenceAllele": "T",
          "start": 2130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000350026.9:c.2130T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000055163.7:p.His710="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262649"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 627,
          "referenceAllele": "T",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000414678.6:c.627T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412835.2:p.His209="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283628"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 238,
          "referenceAllele": "T",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000452544.1:n.238T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS301674"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 28,
          "referenceAllele": "T",
          "start": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "ENST00000493658.1:n.28T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330762"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2130,
          "referenceAllele": "T",
          "start": 2129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_017519.2:c.2130T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_059989.2:p.His710="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034978"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829950525",
      "coordinates": [
        {
          "allele": "C",
          "end": 2169,
          "referenceAllele": "T",
          "start": 2168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_020732.3:c.2169T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_065783.3:p.His723="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036539"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2168,
          "referenceAllele": "T",
          "start": 2167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_005267069.3:c.2130T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267126.2:p.His710="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065283"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1176,
          "referenceAllele": "T",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_011535984.1:c.1080T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534286.1:p.His360="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102986"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1145,
          "referenceAllele": "T",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_011535985.1:c.1080T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534287.1:p.His360="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102987"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 690,
          "referenceAllele": "T",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_011535986.1:c.660T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534288.1:p.His220="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102988"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 294,
          "referenceAllele": "T",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_011535987.1:c.279T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534289.1:p.His93="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102989"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2205,
          "referenceAllele": "T",
          "start": 2204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_001346813.1:c.2130T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333742.1:p.His710="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517678"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 274,
          "referenceAllele": "T",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_001363725.1:c.-121T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350654.1:n.-121T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523510"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2287,
          "referenceAllele": "T",
          "start": 2286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_011535984.2:c.2211T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534286.2:p.His737="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552267"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2287,
          "referenceAllele": "T",
          "start": 2286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_017011103.2:c.2211T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866592.1:p.His737="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2286,
          "referenceAllele": "T",
          "start": 2285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_017011104.1:c.2211T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866593.1:p.His737="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2287,
          "referenceAllele": "T",
          "start": 2286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_017011105.2:c.2211T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866594.1:p.His737="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565024"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2286,
          "referenceAllele": "T",
          "start": 2285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_017011106.2:c.2211T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866595.1:p.His737="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565025"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2287,
          "referenceAllele": "T",
          "start": 2286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XM_017011107.2:c.2211T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866596.1:p.His737="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565026"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2294,
          "referenceAllele": "T",
          "start": 2293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "XR_002956289.1:n.2294T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602451"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 269,
          "referenceAllele": "T",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_001363725.2:c.-121T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350654.1:n.-121T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690754"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828447875",
      "coordinates": [
        {
          "allele": "C",
          "end": 3338,
          "referenceAllele": "T",
          "start": 3337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_001371656.1:c.2418T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358585.1:p.His806="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828553356",
      "coordinates": [
        {
          "allele": "C",
          "end": 2721,
          "referenceAllele": "T",
          "start": 2720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_001374820.1:c.2418T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361749.1:p.His806="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828555082",
      "coordinates": [
        {
          "allele": "C",
          "end": 2682,
          "referenceAllele": "T",
          "start": 2681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_001374828.1:c.2379T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361757.1:p.His793="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693389",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000636930.2:c.2379T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001374828.1:c.2379T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490491.2:p.His793="
          },
          "RefSeq": {
            "hgvs": "NP_001361757.1:p.His793="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829868417",
      "coordinates": [
        {
          "allele": "C",
          "end": 2682,
          "referenceAllele": "T",
          "start": 2681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018040",
      "geneNCBI_id": 57492,
      "geneSymbol": "ARID1B",
      "hgvs": [
        "NM_017519.3:c.2379T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_059989.3:p.His793="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697814"
    }
  ],
  "type": "nucleotide"
}