{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5738341",
  "communityStandardTitle": [
    "NM_000375.3(UROS):c.661-31T>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39583[alleleid]",
        "alleleId": 39583,
        "preferredName": "NM_000375.3(UROS):c.661-31T>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30626",
        "RCV": [
          "RCV000023601"
        ],
        "variationId": 30626
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-127477605-A-C",
        "id": "10-127477605-A-C",
        "variant": "10:127477605 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.127477605A>C?assembly=hg19",
        "id": "chr10:g.127477605A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.125789036A>C?assembly=hg38",
        "id": "chr10:g.125789036A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/750180293",
        "rs": 750180293
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-127477605-A-C?dataset=gnomad_r2_1",
        "id": "10-127477605-A-C",
        "variant": "10:127477605 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-125789036-A-C?dataset=gnomad_r3",
        "id": "10-125789036-A-C",
        "variant": "10:125789036 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-125789036-A-C?dataset=gnomad_r4",
        "id": "10-125789036-A-C",
        "variant": "10:125789036 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 125789036,
          "referenceAllele": "A",
          "start": 125789035
        }
      ],
      "hgvs": [
        "NC_000010.11:g.125789036A>C",
        "CM000672.2:g.125789036A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 127477605,
          "referenceAllele": "A",
          "start": 127477604
        }
      ],
      "hgvs": [
        "NC_000010.10:g.127477605A>C",
        "CM000672.1:g.127477605A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 127467595,
          "referenceAllele": "A",
          "start": 127467594
        }
      ],
      "hgvs": [
        "NC_000010.9:g.127467595A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 39233,
          "referenceAllele": "T",
          "start": 39232
        }
      ],
      "hgvs": [
        "NG_011557.1:g.39233T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001817"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 39233,
          "referenceAllele": "T",
          "start": 39232
        }
      ],
      "hgvs": [
        "NG_011557.2:g.39233T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616140"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 946,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 946,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "ENST00000713579.1:c.661-31T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518871.1:n.661-31T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914860"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 916,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 916,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "ENST00000368797.10:c.661-31T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357787.4:n.661-31T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750284",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368797.10:c.661-31T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000375.3:c.661-31T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357787.4:n.661-31T>G"
          },
          "RefSeq": {
            "hgvs": "NP_000366.1:n.661-31T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 680,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 680,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "ENST00000465577.6:c.681-31T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756845"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1275,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 1275,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "ENST00000648427.1:c.*659-31T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497909.1:n.*659-31T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769974"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 859,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 859,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "ENST00000649536.1:c.661-31T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497817.1:n.661-31T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770594"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 810,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 810,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "ENST00000650185.1:c.811-31T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770985"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3046,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 3046,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "ENST00000650472.1:n.3047-31T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771136"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 573,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 573,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "ENST00000650524.1:c.574-31T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498108.1:n.574-31T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771164"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 752,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 752,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "ENST00000650587.1:c.742-31T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497366.1:n.742-31T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 793,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 793,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "ENST00000368786.5:c.661-31T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357775.1:n.661-31T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267179"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 885,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 885,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "ENST00000368797.8:c.661-31T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357787.4:n.661-31T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267183"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 757,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 757,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "ENST00000464267.1:n.758-31T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308135"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 302,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 302,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "ENST00000465577.5:n.303-31T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309150"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 348,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 348,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "ENST00000470483.1:n.349-31T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312909"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 433,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 433,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "ENST00000484541.5:n.434-31T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323772"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 160,
          "endIntronDirection": "-",
          "endIntronOffset": 3775,
          "referenceAllele": "T",
          "start": 160,
          "startIntronDirection": "-",
          "startIntronOffset": 3776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "ENST00000616800.4:c.161-3776T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS403209"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 240,
          "endIntronDirection": "-",
          "endIntronOffset": 3196,
          "referenceAllele": "T",
          "start": 240,
          "startIntronDirection": "-",
          "startIntronOffset": 3197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "ENST00000622016.4:c.241-3197T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483041.1:n.241-3197T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405524"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 926,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 926,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NM_000375.2:c.661-31T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000366.1:n.661-31T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006437"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 849,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 849,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "XM_005270137.2:c.742-31T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270194.1:n.742-31T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066416"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 686,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 686,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "XM_005270138.2:c.661-31T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270195.1:n.661-31T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066417"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 768,
          "endIntronDirection": "-",
          "endIntronOffset": 3196,
          "referenceAllele": "T",
          "start": 768,
          "startIntronDirection": "-",
          "startIntronOffset": 3197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "XM_005270139.2:c.661-3197T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270196.1:n.661-3197T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066418"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 805,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 805,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "XM_006717960.2:c.742-31T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718023.1:n.742-31T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072405"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 768,
          "endIntronDirection": "-",
          "endIntronOffset": 3775,
          "referenceAllele": "T",
          "start": 768,
          "startIntronDirection": "-",
          "startIntronOffset": 3776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "XM_011540127.1:c.661-3776T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538429.1:n.661-3776T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107077"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 840,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 840,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "XR_246103.2:n.841-31T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117110"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1070,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 1070,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "XR_945810.1:n.1071-31T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139442"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 916,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 916,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NM_000375.3:c.661-31T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000366.1:n.661-31T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510784",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368797.10:c.661-31T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000375.3:c.661-31T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357787.4:n.661-31T>G"
          },
          "RefSeq": {
            "hgvs": "NP_000366.1:n.661-31T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1007,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 1007,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NM_001324036.1:c.742-31T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310965.1:n.742-31T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515675"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 926,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 926,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NM_001324037.1:c.661-31T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310966.1:n.661-31T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515676"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 845,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 845,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NM_001324038.1:c.580-31T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310967.1:n.580-31T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515677"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 745,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 745,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NR_136675.1:n.746-31T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528958"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1172,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 1172,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NR_136676.1:n.1173-31T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528959"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 926,
          "endIntronDirection": "-",
          "endIntronOffset": 3196,
          "referenceAllele": "T",
          "start": 926,
          "startIntronDirection": "-",
          "startIntronOffset": 3197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NR_136677.1:n.927-3197T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528960"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 656,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 656,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NR_136678.1:n.657-31T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528961"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 783,
          "endIntronDirection": "-",
          "endIntronOffset": 3775,
          "referenceAllele": "T",
          "start": 783,
          "startIntronDirection": "-",
          "startIntronOffset": 3776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "XM_011540127.2:c.661-3776T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538429.1:n.661-3776T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553914"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 805,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 805,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "XM_017016611.2:c.742-31T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872100.2:n.742-31T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569000"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 783,
          "endIntronDirection": "-",
          "endIntronOffset": 3196,
          "referenceAllele": "T",
          "start": 783,
          "startIntronDirection": "-",
          "startIntronOffset": 3197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "XM_017016612.2:c.661-3197T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872101.1:n.661-3197T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 724,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 724,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "XM_024448154.1:c.661-31T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303922.1:n.661-31T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581734"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1999,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 1999,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "XR_002957010.1:n.2000-31T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603147"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 855,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 855,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "XR_246103.3:n.856-31T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606217"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1085,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 1085,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "XR_945810.2:n.1086-31T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614160"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 997,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 997,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NM_001324036.2:c.742-31T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310965.1:n.742-31T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686182"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 916,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 916,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NM_001324037.2:c.661-31T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310966.1:n.661-31T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686183"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 835,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 835,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NM_001324038.2:c.580-31T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310967.1:n.580-31T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686184"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 735,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 735,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NR_136675.2:n.736-31T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703929"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1162,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 1162,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NR_136676.2:n.1163-31T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703930"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 646,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "T",
          "start": 646,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NR_136678.2:n.647-31T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703931"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 916,
          "endIntronDirection": "-",
          "endIntronOffset": 3196,
          "referenceAllele": "T",
          "start": 916,
          "startIntronDirection": "-",
          "startIntronOffset": 3197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NR_136677.2:n.917-3197T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731017"
    }
  ],
  "type": "nucleotide"
}