{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA081852",
  "communityStandardTitle": [
    "NM_001370658.1(BTD):c.[73G>A;1211G>C] (p.[Gly25Arg;Cys404Ser])"
  ],
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 15635512,
          "referenceAllele": "G",
          "start": 15635511
        },
        {
          "allele": "C",
          "end": 15645127,
          "referenceAllele": "G",
          "start": 15645126
        }
      ],
      "hgvs": [
        "NC_000003.12:g.[15635512G>A;15645127G>C]",
        "CM000665.2:g.[15635512G>A;15645127G>C]"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 15677019,
          "referenceAllele": "G",
          "start": 15677018
        },
        {
          "allele": "C",
          "end": 15686634,
          "referenceAllele": "G",
          "start": 15686633
        }
      ],
      "hgvs": [
        "NC_000003.11:g.[15677019G>A;15686634G>C]",
        "CM000665.1:g.[15677019G>A;15686634G>C]"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 15652023,
          "referenceAllele": "G",
          "start": 15652022
        },
        {
          "allele": "C",
          "end": 15661638,
          "referenceAllele": "G",
          "start": 15661637
        }
      ],
      "hgvs": [
        "NC_000003.10:g.[15652023G>A;15661638G>C]"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 38765,
          "referenceAllele": "G",
          "start": 38764
        },
        {
          "allele": "C",
          "end": 48380,
          "referenceAllele": "G",
          "start": 48379
        }
      ],
      "hgvs": [
        "NG_008019.1:g.[38765G>A;48380G>C]"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000779"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 39161,
          "referenceAllele": "G",
          "start": 39160
        },
        {
          "allele": "C",
          "end": 48776,
          "referenceAllele": "G",
          "start": 48775
        }
      ],
      "hgvs": [
        "NG_008019.2:g.[39161G>A;48776G>C]"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706077"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 431,
          "referenceAllele": "G",
          "start": 430
        },
        {
          "allele": "C",
          "end": 1569,
          "referenceAllele": "G",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000436193.6:c.[73G>A;1211G>C]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394277.2:p.[Gly25Arg;Cys404Ser]",
        "hgvsWellDefined": "ENSP00000394277.2:p.[Gly25Arg;Cys404Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914065"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 239,
          "referenceAllele": "G",
          "start": 238
        },
        {
          "allele": "C",
          "end": 565,
          "endIntronDirection": "+",
          "endIntronOffset": 3070,
          "referenceAllele": "G",
          "start": 565,
          "startIntronDirection": "+",
          "startIntronOffset": 3069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000671928.2:c.[73G>A;399+3070G>C]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500069.2:p.Gly25Arg",
        "hgvsWellDefined": "ENSP00000500069.2:p.Gly25Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914442"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 239,
          "referenceAllele": "G",
          "start": 238
        },
        {
          "allele": "C",
          "end": 1181,
          "endIntronDirection": "+",
          "endIntronOffset": 196,
          "referenceAllele": "G",
          "start": 1181,
          "startIntronDirection": "+",
          "startIntronOffset": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000672892.2:c.[73G>A;1015+196G>C]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499944.2:p.Gly25Arg",
        "hgvsWellDefined": "ENSP00000499944.2:p.Gly25Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914445"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 524,
          "referenceAllele": "G",
          "start": 523
        },
        {
          "allele": "C",
          "end": 1662,
          "referenceAllele": "G",
          "start": 1661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000303498.10:c.[73G>A;1211G>C]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306477.6:p.[Gly25Arg;Cys404Ser]",
        "hgvsWellDefined": "ENSP00000306477.6:p.[Gly25Arg;Cys404Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 396,
          "referenceAllele": "G",
          "start": 395
        },
        {
          "allele": "C",
          "end": 1534,
          "referenceAllele": "G",
          "start": 1533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000427382.2:c.[73G>A;1211G>C]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397113.2:p.[Gly25Arg;Cys404Ser]",
        "hgvsWellDefined": "ENSP00000397113.2:p.[Gly25Arg;Cys404Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755176"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 371,
          "referenceAllele": "G",
          "start": 370
        },
        {
          "allele": "C",
          "end": 1509,
          "referenceAllele": "G",
          "start": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000437172.6:c.[73G>A;1211G>C]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400995.2:p.[Gly25Arg;Cys404Ser]",
        "hgvsWellDefined": "ENSP00000400995.2:p.[Gly25Arg;Cys404Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755651"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 490,
          "referenceAllele": "G",
          "start": 489
        },
        {
          "allele": "C",
          "end": 1628,
          "referenceAllele": "G",
          "start": 1627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000449107.7:c.[73G>A;1211G>C]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388212.2:p.[Gly25Arg;Cys404Ser]",
        "hgvsWellDefined": "ENSP00000388212.2:p.[Gly25Arg;Cys404Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756215"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 239,
          "referenceAllele": "G",
          "start": 238
        },
        {
          "allele": "C",
          "end": 1377,
          "referenceAllele": "G",
          "start": 1376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000643237.3:c.[73G>A;1211G>C]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495254.2:p.[Gly25Arg;Cys404Ser]",
        "hgvsWellDefined": "ENSP00000495254.2:p.[Gly25Arg;Cys404Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767167",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000643237.3:c.[73G>A;1211G>C]"
          },
          "RefSeq": {
            "hgvs": "NM_001370658.1:c.[73G>A;1211G>C]"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495254.2:p.[Gly25Arg;Cys404Ser]"
          },
          "RefSeq": {
            "hgvs": "NP_001357587.1:p.[Gly25Arg;Cys404Ser]"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 384,
          "referenceAllele": "G",
          "start": 383
        },
        {
          "allele": "C",
          "end": 1522,
          "referenceAllele": "G",
          "start": 1521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000646371.1:c.[73G>A;1211G>C]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495866.1:p.[Gly25Arg;Cys404Ser]",
        "hgvsWellDefined": "ENSP00000495866.1:p.[Gly25Arg;Cys404Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768834"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 239,
          "referenceAllele": "G",
          "start": 238
        },
        {
          "allele": "C",
          "end": 1377,
          "referenceAllele": "G",
          "start": 1376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000672065.1:c.[133G>A;1271G>C]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500403.1:p.[Gly45Arg;Cys424Ser]",
        "hgvsWellDefined": "ENSP00000500403.1:p.[Gly45Arg;Cys424Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773257"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 427,
          "referenceAllele": "G",
          "start": 426
        },
        {
          "allele": "C",
          "end": 1565,
          "referenceAllele": "G",
          "start": 1564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000672112.1:c.[139G>A;1277G>C]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500193.1:p.[Gly47Arg;Cys426Ser]",
        "hgvsWellDefined": "ENSP00000500193.1:p.[Gly47Arg;Cys426Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773275"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 239,
          "referenceAllele": "G",
          "start": 238
        },
        {
          "allele": "C",
          "end": 565,
          "endIntronDirection": "+",
          "endIntronOffset": 3070,
          "referenceAllele": "G",
          "start": 565,
          "startIntronDirection": "+",
          "startIntronOffset": 3069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000672141.1:c.[73G>A;399+3070G>C]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500210.1:p.Gly25Arg",
        "hgvsWellDefined": "ENSP00000500210.1:p.Gly25Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773287"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 225,
          "referenceAllele": "G",
          "start": 224
        },
        {
          "allele": "C",
          "end": 1167,
          "endIntronDirection": "+",
          "endIntronOffset": 196,
          "referenceAllele": "G",
          "start": 1167,
          "startIntronDirection": "+",
          "startIntronOffset": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000672427.1:c.[73G>A;1015+196G>C]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500131.1:p.Gly25Arg",
        "hgvsWellDefined": "ENSP00000500131.1:p.Gly25Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773382"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 203,
          "referenceAllele": "G",
          "start": 202
        },
        {
          "allele": "C",
          "end": 529,
          "endIntronDirection": "+",
          "endIntronOffset": 3070,
          "referenceAllele": "G",
          "start": 529,
          "startIntronDirection": "+",
          "startIntronOffset": 3069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000672760.1:c.[73G>A;399+3070G>C]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500530.1:p.Gly25Arg",
        "hgvsWellDefined": "ENSP00000500530.1:p.Gly25Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 206,
          "referenceAllele": "G",
          "start": 205
        },
        {
          "allele": "C",
          "end": 532,
          "endIntronDirection": "+",
          "endIntronOffset": 3070,
          "referenceAllele": "G",
          "start": 532,
          "startIntronDirection": "+",
          "startIntronOffset": 3069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000673467.1:c.[73G>A;399+3070G>C]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500288.1:p.Gly25Arg",
        "hgvsWellDefined": "ENSP00000500288.1:p.Gly25Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773694"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 134,
          "referenceAllele": "G",
          "start": 133
        },
        {
          "allele": "C",
          "end": 460,
          "endIntronDirection": "+",
          "endIntronOffset": 3070,
          "referenceAllele": "G",
          "start": 460,
          "startIntronDirection": "+",
          "startIntronOffset": 3069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000673620.1:c.[73G>A;399+3070G>C]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500325.1:p.Gly25Arg",
        "hgvsWellDefined": "ENSP00000500325.1:p.Gly25Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773737"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 242,
          "referenceAllele": "G",
          "start": 241
        },
        {
          "allele": "C",
          "end": 1380,
          "referenceAllele": "G",
          "start": 1379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000303498.9:c.[133G>A;1271G>C]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306477.5:p.[Gly45Arg;Cys424Ser]",
        "hgvsWellDefined": "ENSP00000306477.5:p.[Gly45Arg;Cys424Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255323"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 431,
          "referenceAllele": "G",
          "start": 430
        },
        {
          "allele": "C",
          "end": 1569,
          "referenceAllele": "G",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000383778.5:c.[73G>A;1211G>C]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373288.4:p.[Gly25Arg;Cys404Ser]",
        "hgvsWellDefined": "ENSP00000373288.4:p.[Gly25Arg;Cys404Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274028"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 371,
          "referenceAllele": "G",
          "start": 370
        },
        {
          "allele": "C",
          "end": 1509,
          "referenceAllele": "G",
          "start": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000437172.5:c.[139G>A;1277G>C]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400995.1:p.[Gly47Arg;Cys426Ser]",
        "hgvsWellDefined": "ENSP00000400995.1:p.[Gly47Arg;Cys426Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294336"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 227,
          "referenceAllele": "G",
          "start": 226
        },
        {
          "allele": "C",
          "end": 1365,
          "referenceAllele": "G",
          "start": 1364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000449107.5:c.[139G>A;1277G>C]"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388212.1:p.[Gly47Arg;Cys426Ser]",
        "hgvsWellDefined": "ENSP00000388212.1:p.[Gly47Arg;Cys426Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300046"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 239,
          "referenceAllele": "G",
          "start": 238
        },
        {
          "allele": "C",
          "end": 1377,
          "referenceAllele": "G",
          "start": 1376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_000060.3:c.[133G>A;1271G>C]"
      ],
      "proteinEffect": {
        "hgvs": "NP_000051.1:p.[Gly45Arg;Cys424Ser]",
        "hgvsWellDefined": "NP_000051.1:p.[Gly45Arg;Cys424Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006124"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 508,
          "referenceAllele": "G",
          "start": 507
        },
        {
          "allele": "C",
          "end": 1646,
          "referenceAllele": "G",
          "start": 1645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281723.1:c.[139G>A;1277G>C]"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268652.1:p.[Gly47Arg;Cys426Ser]",
        "hgvsWellDefined": "NP_001268652.1:p.[Gly47Arg;Cys426Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021687"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 427,
          "referenceAllele": "G",
          "start": 426
        },
        {
          "allele": "C",
          "end": 1565,
          "referenceAllele": "G",
          "start": 1564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281724.1:c.[139G>A;1277G>C]"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268653.1:p.[Gly47Arg;Cys426Ser]",
        "hgvsWellDefined": "NP_001268653.1:p.[Gly47Arg;Cys426Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 431,
          "referenceAllele": "G",
          "start": 430
        },
        {
          "allele": "C",
          "end": 1569,
          "referenceAllele": "G",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281725.1:c.[73G>A;1211G>C]"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268654.1:p.[Gly25Arg;Cys404Ser]",
        "hgvsWellDefined": "NP_001268654.1:p.[Gly25Arg;Cys404Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 459,
          "referenceAllele": "G",
          "start": 458
        },
        {
          "allele": "C",
          "end": 1597,
          "referenceAllele": "G",
          "start": 1596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "XM_006713314.2:c.[73G>A;1211G>C]"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713377.1:p.[Gly25Arg;Cys404Ser]",
        "hgvsWellDefined": "XP_006713377.1:p.[Gly25Arg;Cys404Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070104"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 356,
          "referenceAllele": "G",
          "start": 355
        },
        {
          "allele": "C",
          "end": 1494,
          "referenceAllele": "G",
          "start": 1493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "XM_011534041.1:c.[73G>A;1211G>C]"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532343.1:p.[Gly25Arg;Cys404Ser]",
        "hgvsWellDefined": "XP_011532343.1:p.[Gly25Arg;Cys404Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101059"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 239,
          "referenceAllele": "G",
          "start": 238
        },
        {
          "allele": "C",
          "end": 1377,
          "referenceAllele": "G",
          "start": 1376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_000060.4:c.[133G>A;1271G>C]"
      ],
      "proteinEffect": {
        "hgvs": "NP_000051.1:p.[Gly45Arg;Cys424Ser]",
        "hgvsWellDefined": "NP_000051.1:p.[Gly45Arg;Cys424Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510748"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 508,
          "referenceAllele": "G",
          "start": 507
        },
        {
          "allele": "C",
          "end": 1646,
          "referenceAllele": "G",
          "start": 1645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281723.2:c.[139G>A;1277G>C]"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268652.1:p.[Gly47Arg;Cys426Ser]",
        "hgvsWellDefined": "NP_001268652.1:p.[Gly47Arg;Cys426Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512079"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 427,
          "referenceAllele": "G",
          "start": 426
        },
        {
          "allele": "C",
          "end": 1565,
          "referenceAllele": "G",
          "start": 1564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281724.2:c.[139G>A;1277G>C]"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268653.1:p.[Gly47Arg;Cys426Ser]",
        "hgvsWellDefined": "NP_001268653.1:p.[Gly47Arg;Cys426Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512080"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 431,
          "referenceAllele": "G",
          "start": 430
        },
        {
          "allele": "C",
          "end": 1569,
          "referenceAllele": "G",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281725.2:c.[73G>A;1211G>C]"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268654.1:p.[Gly25Arg;Cys404Ser]",
        "hgvsWellDefined": "NP_001268654.1:p.[Gly25Arg;Cys404Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512081"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 515,
          "referenceAllele": "G",
          "start": 514
        },
        {
          "allele": "C",
          "end": 1653,
          "referenceAllele": "G",
          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001323582.1:c.[73G>A;1211G>C]"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310511.1:p.[Gly25Arg;Cys404Ser]",
        "hgvsWellDefined": "NP_001310511.1:p.[Gly25Arg;Cys404Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515472"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 356,
          "referenceAllele": "G",
          "start": 355
        },
        {
          "allele": "C",
          "end": 1494,
          "referenceAllele": "G",
          "start": 1493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "XM_011534041.2:c.[73G>A;1211G>C]"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532343.1:p.[Gly25Arg;Cys404Ser]",
        "hgvsWellDefined": "XP_011532343.1:p.[Gly25Arg;Cys404Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551484"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 632,
          "referenceAllele": "G",
          "start": 631
        },
        {
          "allele": "C",
          "end": 1770,
          "referenceAllele": "G",
          "start": 1769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "XM_017007088.1:c.[73G>A;1211G>C]"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862577.1:p.[Gly25Arg;Cys404Ser]",
        "hgvsWellDefined": "XP_016862577.1:p.[Gly25Arg;Cys404Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561945"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 466,
          "referenceAllele": "G",
          "start": 465
        },
        {
          "allele": "C",
          "end": 1604,
          "referenceAllele": "G",
          "start": 1603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "XM_024453724.1:c.[73G>A;1211G>C]"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309492.1:p.[Gly25Arg;Cys404Ser]",
        "hgvsWellDefined": "XP_024309492.1:p.[Gly25Arg;Cys404Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587099"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 508,
          "referenceAllele": "G",
          "start": 507
        },
        {
          "allele": "C",
          "end": 1646,
          "referenceAllele": "G",
          "start": 1645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281723.3:c.[73G>A;1211G>C]"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268652.2:p.[Gly25Arg;Cys404Ser]",
        "hgvsWellDefined": "NP_001268652.2:p.[Gly25Arg;Cys404Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681660"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 427,
          "referenceAllele": "G",
          "start": 426
        },
        {
          "allele": "C",
          "end": 1565,
          "referenceAllele": "G",
          "start": 1564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281724.3:c.[73G>A;1211G>C]"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268653.2:p.[Gly25Arg;Cys404Ser]",
        "hgvsWellDefined": "NP_001268653.2:p.[Gly25Arg;Cys404Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681661"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 239,
          "referenceAllele": "G",
          "start": 238
        },
        {
          "allele": "C",
          "end": 1377,
          "referenceAllele": "G",
          "start": 1376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001370658.1:c.[73G>A;1211G>C]"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357587.1:p.[Gly25Arg;Cys404Ser]",
        "hgvsWellDefined": "NP_001357587.1:p.[Gly25Arg;Cys404Ser]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692577",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000643237.3:c.[73G>A;1211G>C]"
          },
          "RefSeq": {
            "hgvs": "NM_001370658.1:c.[73G>A;1211G>C]"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495254.2:p.[Gly25Arg;Cys404Ser]"
          },
          "RefSeq": {
            "hgvs": "NP_001357587.1:p.[Gly25Arg;Cys404Ser]"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828448582",
      "coordinates": [
        {
          "allele": "A",
          "end": 239,
          "referenceAllele": "G",
          "start": 238
        },
        {
          "allele": "C",
          "end": 1181,
          "endIntronDirection": "+",
          "endIntronOffset": 196,
          "referenceAllele": "G",
          "start": 1181,
          "startIntronDirection": "+",
          "startIntronOffset": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001370752.1:c.[73G>A;1015+196G>C]"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357681.1:p.Gly25Arg",
        "hgvsWellDefined": "NP_001357681.1:p.Gly25Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139743040",
      "coordinates": [
        {
          "allele": "A",
          "end": 239,
          "referenceAllele": "G",
          "start": 238
        },
        {
          "allele": "C",
          "end": 565,
          "endIntronDirection": "+",
          "endIntronOffset": 3070,
          "referenceAllele": "G",
          "start": 565,
          "startIntronDirection": "+",
          "startIntronOffset": 3069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001370753.1:c.[73G>A;399+3070G>C]"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357682.1:p.Gly25Arg",
        "hgvsWellDefined": "NP_001357682.1:p.Gly25Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692599"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 239,
          "referenceAllele": "G",
          "start": 238
        },
        {
          "allele": "C",
          "end": 3635,
          "referenceAllele": "G",
          "start": 3634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281726.2:c.[73G>A;*2989G>C]"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268655.2:[p.Gly25Arg;n.*2989G>C]",
        "hgvsWellDefined": "NP_001268655.2:p.Gly25Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715719"
    }
  ],
  "type": "nucleotide"
}