{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA803967804",
  "communityStandardTitle": [
    "NM_003060.4(SLC22A5):c.825-52G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=851850[alleleid]",
        "alleleId": 851850,
        "preferredName": "NM_003060.4(SLC22A5):c.825-52G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/842614",
        "RCV": [
          "RCV001045059",
          "RCV002226510"
        ],
        "variationId": 842614
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.131722665G>A?assembly=hg19",
        "id": "chr5:g.131722665G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.132386973G>A?assembly=hg38",
        "id": "chr5:g.132386973G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1194929977",
        "rs": 1194929977
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-132386973-G-A?dataset=gnomad_r4",
        "id": "5-132386973-G-A",
        "variant": "5:132386973 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 132386973,
          "referenceAllele": "G",
          "start": 132386972
        }
      ],
      "hgvs": [
        "NC_000005.10:g.132386973G>A",
        "CM000667.2:g.132386973G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 131722665,
          "referenceAllele": "G",
          "start": 131722664
        }
      ],
      "hgvs": [
        "NC_000005.9:g.131722665G>A",
        "CM000667.1:g.131722665G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 131750564,
          "referenceAllele": "G",
          "start": 131750563
        }
      ],
      "hgvs": [
        "NC_000005.8:g.131750564G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22265,
          "referenceAllele": "G",
          "start": 22264
        }
      ],
      "hgvs": [
        "NG_008982.1:g.22265G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001353"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22270,
          "referenceAllele": "G",
          "start": 22269
        }
      ],
      "hgvs": [
        "NG_008982.2:g.22270G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616121"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 799,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "G",
          "start": 799,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000415928.6:c.666-52G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388838.2:n.666-52G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824654"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1052,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "G",
          "start": 1052,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000435065.7:c.897-52G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402760.2:n.897-52G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 958,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "G",
          "start": 958,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000448810.6:c.825-52G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401860.2:n.825-52G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824998"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 977,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "G",
          "start": 977,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000686757.1:c.844-52G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510721.1:n.844-52G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3458,
          "referenceAllele": "G",
          "start": 3457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000687740.1:n.3458G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831241"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2134,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "G",
          "start": 2134,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000688151.1:n.2135-52G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831464"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 805,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "G",
          "start": 805,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000689271.1:c.672-52G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510797.1:n.672-52G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 929,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "G",
          "start": 929,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000690900.1:c.796-52G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510703.1:n.796-52G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832936"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 768,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "G",
          "start": 768,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692212.1:n.769-52G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833603"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 204,
          "endIntronDirection": "-",
          "endIntronOffset": 1947,
          "referenceAllele": "G",
          "start": 204,
          "startIntronDirection": "-",
          "startIntronOffset": 1948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692355.1:c.205-1948G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833679"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 977,
          "endIntronDirection": "-",
          "endIntronOffset": 88,
          "referenceAllele": "G",
          "start": 977,
          "startIntronDirection": "-",
          "startIntronOffset": 89
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692413.1:c.844-89G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509374.1:n.844-89G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833710"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 892,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "G",
          "start": 892,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692825.1:c.893-52G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509447.1:n.893-52G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 971,
          "endIntronDirection": "-",
          "endIntronOffset": 16,
          "referenceAllele": "G",
          "start": 971,
          "startIntronDirection": "-",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000693308.1:c.838-17G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509770.1:n.838-17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834175"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1984,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "G",
          "start": 1984,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000693763.1:n.1985-52G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834419"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1087,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "G",
          "start": 1087,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000245407.8:c.825-52G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000245407.3:n.825-52G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741243",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000245407.8:c.825-52G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003060.4:c.825-52G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000245407.3:n.825-52G>A"
          },
          "RefSeq": {
            "hgvs": "NP_003051.1:n.825-52G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1045,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "G",
          "start": 1045,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000245407.7:c.825-52G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000245407.3:n.825-52G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249376"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 593,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "G",
          "start": 593,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000415928.5:c.594-52G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388838.1:n.594-52G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284222"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 896,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "G",
          "start": 896,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000435065.6:c.897-52G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402760.2:n.897-52G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293343"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 638,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "G",
          "start": 638,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000437841.6:c.*140-52G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400553.1:n.*140-52G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 172,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "G",
          "start": 172,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000448810.5:c.173-52G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS299893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8246,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "G",
          "start": 8246,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000461013.5:n.8247-52G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1160,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "G",
          "start": 1160,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_001308122.1:c.897-52G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295051.1:n.897-52G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026154"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1088,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "G",
          "start": 1088,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_003060.3:c.825-52G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003051.1:n.825-52G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 294,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "G",
          "start": 294,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XM_011543590.1:c.207-52G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541892.1:n.207-52G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110508"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1184,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "G",
          "start": 1184,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_427718.1:n.1185-52G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117842"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1165,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "G",
          "start": 1165,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948290.1:n.1166-52G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1178,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "G",
          "start": 1178,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948291.1:n.1179-52G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141869"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 678,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "G",
          "start": 678,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XM_011543590.2:c.207-52G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541892.1:n.207-52G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555294"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 387,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "G",
          "start": 387,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XM_017009778.2:c.297-52G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865267.1:n.297-52G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563996"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1165,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "G",
          "start": 1165,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_001742215.1:n.1166-52G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591988"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1184,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "G",
          "start": 1184,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_001742216.1:n.1185-52G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1184,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "G",
          "start": 1184,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_427718.2:n.1185-52G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606473"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1165,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "G",
          "start": 1165,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948290.2:n.1166-52G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1178,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "G",
          "start": 1178,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948291.2:n.1179-52G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1087,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "G",
          "start": 1087,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_003060.4:c.825-52G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003051.1:n.825-52G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695718",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000245407.8:c.825-52G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003060.4:c.825-52G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000245407.3:n.825-52G>A"
          },
          "RefSeq": {
            "hgvs": "NP_003051.1:n.825-52G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1159,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "G",
          "start": 1159,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_001308122.2:c.897-52G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295051.1:n.897-52G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717230"
    }
  ],
  "type": "nucleotide"
}