{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA351607167",
  "communityStandardTitle": [
    "NM_001370658.1(BTD):c.710T>A (p.Val237Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=578682[alleleid]",
        "alleleId": 578682,
        "preferredName": "NM_001370658.1(BTD):c.710T>A (p.Val237Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2734453",
        "RCV": [
          "RCV003499926"
        ],
        "variationId": 2734453
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.15686133T>A?assembly=hg19",
        "id": "chr3:g.15686133T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.15644626T>A?assembly=hg38",
        "id": "chr3:g.15644626T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1190721481",
        "rs": 1190721481
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-15686133-T-A?dataset=gnomad_r2_1",
        "id": "3-15686133-T-A",
        "variant": "3:15686133 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-15644626-T-A?dataset=gnomad_r4",
        "id": "3-15644626-T-A",
        "variant": "3:15644626 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 15644626,
          "referenceAllele": "T",
          "start": 15644625
        }
      ],
      "hgvs": [
        "NC_000003.12:g.15644626T>A",
        "CM000665.2:g.15644626T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 15686133,
          "referenceAllele": "T",
          "start": 15686132
        }
      ],
      "hgvs": [
        "NC_000003.11:g.15686133T>A",
        "CM000665.1:g.15686133T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 15661137,
          "referenceAllele": "T",
          "start": 15661136
        }
      ],
      "hgvs": [
        "NC_000003.10:g.15661137T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 47879,
          "referenceAllele": "T",
          "start": 47878
        }
      ],
      "hgvs": [
        "NG_008019.1:g.47879T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000779"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 48275,
          "referenceAllele": "T",
          "start": 48274
        }
      ],
      "hgvs": [
        "NG_008019.2:g.48275T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706077"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1068,
          "referenceAllele": "T",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000436193.6:c.710T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394277.2:p.Val237Asp",
        "hgvsWellDefined": "ENSP00000394277.2:p.Val237Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914065"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 565,
          "endIntronDirection": "+",
          "endIntronOffset": 2569,
          "referenceAllele": "T",
          "start": 565,
          "startIntronDirection": "+",
          "startIntronOffset": 2568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000671928.2:c.399+2569T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500069.2:n.399+2569T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914442"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 876,
          "referenceAllele": "T",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000672892.2:c.710T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499944.2:p.Val237Asp",
        "hgvsWellDefined": "ENSP00000499944.2:p.Val237Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914445"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1161,
          "referenceAllele": "T",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000303498.10:c.710T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306477.6:p.Val237Asp",
        "hgvsWellDefined": "ENSP00000306477.6:p.Val237Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1033,
          "referenceAllele": "T",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000427382.2:c.710T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397113.2:p.Val237Asp",
        "hgvsWellDefined": "ENSP00000397113.2:p.Val237Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755176"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1008,
          "referenceAllele": "T",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000437172.6:c.710T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400995.2:p.Val237Asp",
        "hgvsWellDefined": "ENSP00000400995.2:p.Val237Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755651"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1127,
          "referenceAllele": "T",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000449107.7:c.710T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388212.2:p.Val237Asp",
        "hgvsWellDefined": "ENSP00000388212.2:p.Val237Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756215"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 876,
          "referenceAllele": "T",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000643237.3:c.710T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495254.2:p.Val237Asp",
        "hgvsWellDefined": "ENSP00000495254.2:p.Val237Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767167",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000643237.3:c.710T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001370658.1:c.710T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495254.2:p.Val237Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001357587.1:p.Val237Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1021,
          "referenceAllele": "T",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000646371.1:c.710T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495866.1:p.Val237Asp",
        "hgvsWellDefined": "ENSP00000495866.1:p.Val237Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768834"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 165,
          "endIntronDirection": "+",
          "endIntronOffset": 2569,
          "referenceAllele": "T",
          "start": 165,
          "startIntronDirection": "+",
          "startIntronOffset": 2568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000671928.1:c.165+2569T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500069.1:n.165+2569T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 876,
          "referenceAllele": "T",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000672065.1:c.770T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500403.1:p.Val257Asp",
        "hgvsWellDefined": "ENSP00000500403.1:p.Val257Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773257"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1064,
          "referenceAllele": "T",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000672112.1:c.776T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500193.1:p.Val259Asp",
        "hgvsWellDefined": "ENSP00000500193.1:p.Val259Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773275"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 565,
          "endIntronDirection": "+",
          "endIntronOffset": 2569,
          "referenceAllele": "T",
          "start": 565,
          "startIntronDirection": "+",
          "startIntronOffset": 2568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000672141.1:c.399+2569T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500210.1:n.399+2569T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773287"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 862,
          "referenceAllele": "T",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000672427.1:c.710T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500131.1:p.Val237Asp",
        "hgvsWellDefined": "ENSP00000500131.1:p.Val237Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773382"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 529,
          "endIntronDirection": "+",
          "endIntronOffset": 2569,
          "referenceAllele": "T",
          "start": 529,
          "startIntronDirection": "+",
          "startIntronOffset": 2568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000672760.1:c.399+2569T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500530.1:n.399+2569T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 488,
          "referenceAllele": "T",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000672892.1:c.488T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499944.1:p.Val163Asp",
        "hgvsWellDefined": "ENSP00000499944.1:p.Val163Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 532,
          "endIntronDirection": "+",
          "endIntronOffset": 2569,
          "referenceAllele": "T",
          "start": 532,
          "startIntronDirection": "+",
          "startIntronOffset": 2568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000673467.1:c.399+2569T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500288.1:n.399+2569T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773694"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 460,
          "endIntronDirection": "+",
          "endIntronOffset": 2569,
          "referenceAllele": "T",
          "start": 460,
          "startIntronDirection": "+",
          "startIntronOffset": 2568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000673620.1:c.399+2569T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500325.1:n.399+2569T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773737"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 879,
          "referenceAllele": "T",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000303498.9:c.770T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306477.5:p.Val257Asp",
        "hgvsWellDefined": "ENSP00000306477.5:p.Val257Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255323"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1068,
          "referenceAllele": "T",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000383778.5:c.710T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373288.4:p.Val237Asp",
        "hgvsWellDefined": "ENSP00000373288.4:p.Val237Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274028"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1068,
          "referenceAllele": "T",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000436193.5:c.710T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394277.1:p.Val237Asp",
        "hgvsWellDefined": "ENSP00000394277.1:p.Val237Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293856"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1008,
          "referenceAllele": "T",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000437172.5:c.776T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400995.1:p.Val259Asp",
        "hgvsWellDefined": "ENSP00000400995.1:p.Val259Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294336"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 864,
          "referenceAllele": "T",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "ENST00000449107.5:c.776T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388212.1:p.Val259Asp",
        "hgvsWellDefined": "ENSP00000388212.1:p.Val259Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300046"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891846465",
      "coordinates": [
        {
          "allele": "A",
          "end": 876,
          "referenceAllele": "T",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_000060.3:c.770T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000051.1:p.Val257Asp",
        "hgvsWellDefined": "NP_000051.1:p.Val257Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006124"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1145,
          "referenceAllele": "T",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281723.1:c.776T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268652.1:p.Val259Asp",
        "hgvsWellDefined": "NP_001268652.1:p.Val259Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021687"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1064,
          "referenceAllele": "T",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281724.1:c.776T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268653.1:p.Val259Asp",
        "hgvsWellDefined": "NP_001268653.1:p.Val259Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021688"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826591823",
      "coordinates": [
        {
          "allele": "A",
          "end": 1068,
          "referenceAllele": "T",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281725.1:c.710T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268654.1:p.Val237Asp",
        "hgvsWellDefined": "NP_001268654.1:p.Val237Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1096,
          "referenceAllele": "T",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "XM_006713314.2:c.710T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713377.1:p.Val237Asp",
        "hgvsWellDefined": "XP_006713377.1:p.Val237Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070104"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 993,
          "referenceAllele": "T",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "XM_011534041.1:c.710T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532343.1:p.Val237Asp",
        "hgvsWellDefined": "XP_011532343.1:p.Val237Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891846465",
      "coordinates": [
        {
          "allele": "A",
          "end": 876,
          "referenceAllele": "T",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_000060.4:c.770T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000051.1:p.Val257Asp",
        "hgvsWellDefined": "NP_000051.1:p.Val257Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510748"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1145,
          "referenceAllele": "T",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281723.2:c.776T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268652.1:p.Val259Asp",
        "hgvsWellDefined": "NP_001268652.1:p.Val259Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512079"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1064,
          "referenceAllele": "T",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281724.2:c.776T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268653.1:p.Val259Asp",
        "hgvsWellDefined": "NP_001268653.1:p.Val259Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512080"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826591823",
      "coordinates": [
        {
          "allele": "A",
          "end": 1068,
          "referenceAllele": "T",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281725.2:c.710T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268654.1:p.Val237Asp",
        "hgvsWellDefined": "NP_001268654.1:p.Val237Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512081"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827195810",
      "coordinates": [
        {
          "allele": "A",
          "end": 1152,
          "referenceAllele": "T",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001323582.1:c.710T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310511.1:p.Val237Asp",
        "hgvsWellDefined": "NP_001310511.1:p.Val237Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515472"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 993,
          "referenceAllele": "T",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "XM_011534041.2:c.710T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532343.1:p.Val237Asp",
        "hgvsWellDefined": "XP_011532343.1:p.Val237Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551484"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1269,
          "referenceAllele": "T",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "XM_017007088.1:c.710T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862577.1:p.Val237Asp",
        "hgvsWellDefined": "XP_016862577.1:p.Val237Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561945"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1103,
          "referenceAllele": "T",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "XM_024453724.1:c.710T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309492.1:p.Val237Asp",
        "hgvsWellDefined": "XP_024309492.1:p.Val237Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587099"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826589845",
      "coordinates": [
        {
          "allele": "A",
          "end": 1145,
          "referenceAllele": "T",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281723.3:c.710T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268652.2:p.Val237Asp",
        "hgvsWellDefined": "NP_001268652.2:p.Val237Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681660"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826590822",
      "coordinates": [
        {
          "allele": "A",
          "end": 1064,
          "referenceAllele": "T",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281724.3:c.710T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268653.2:p.Val237Asp",
        "hgvsWellDefined": "NP_001268653.2:p.Val237Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681661"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828445964",
      "coordinates": [
        {
          "allele": "A",
          "end": 876,
          "referenceAllele": "T",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001370658.1:c.710T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357587.1:p.Val237Asp",
        "hgvsWellDefined": "NP_001357587.1:p.Val237Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692577",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000643237.3:c.710T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001370658.1:c.710T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495254.2:p.Val237Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001357587.1:p.Val237Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916048664",
      "coordinates": [
        {
          "allele": "A",
          "end": 876,
          "referenceAllele": "T",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001370752.1:c.710T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357681.1:p.Val237Asp",
        "hgvsWellDefined": "NP_001357681.1:p.Val237Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 565,
          "endIntronDirection": "+",
          "endIntronOffset": 2569,
          "referenceAllele": "T",
          "start": 565,
          "startIntronDirection": "+",
          "startIntronOffset": 2568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001370753.1:c.399+2569T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357682.1:n.399+2569T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692599"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3134,
          "referenceAllele": "T",
          "start": 3133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NM_001281726.2:c.*2488T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268655.2:n.*2488T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715719"
    }
  ],
  "type": "nucleotide"
}