{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3404089",
  "communityStandardTitle": [
    "NM_003060.4(SLC22A5):c.1139C>T (p.Ala380Val)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1226062",
        "active": true,
        "id": "COSM1226062"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=543790[alleleid]",
        "alleleId": 543790,
        "preferredName": "NM_003060.4(SLC22A5):c.1139C>T (p.Ala380Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/553624",
        "RCV": [
          "RCV000669110",
          "RCV002282306"
        ],
        "variationId": 553624
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-131726468-C-T",
        "id": "5-131726468-C-T",
        "variant": "5:131726468 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.131726468C>T?assembly=hg19",
        "id": "chr5:g.131726468C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.132390776C>T?assembly=hg38",
        "id": "chr5:g.132390776C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/746187344",
        "rs": 746187344
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-131726468-C-T?dataset=gnomad_r2_1",
        "id": "5-131726468-C-T",
        "variant": "5:131726468 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-132390776-C-T?dataset=gnomad_r3",
        "id": "5-132390776-C-T",
        "variant": "5:132390776 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-132390776-C-T?dataset=gnomad_r4",
        "id": "5-132390776-C-T",
        "variant": "5:132390776 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 132390776,
          "referenceAllele": "C",
          "start": 132390775
        }
      ],
      "hgvs": [
        "NC_000005.10:g.132390776C>T",
        "CM000667.2:g.132390776C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 131726468,
          "referenceAllele": "C",
          "start": 131726467
        }
      ],
      "hgvs": [
        "NC_000005.9:g.131726468C>T",
        "CM000667.1:g.131726468C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 131754367,
          "referenceAllele": "C",
          "start": 131754366
        }
      ],
      "hgvs": [
        "NC_000005.8:g.131754367C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26068,
          "referenceAllele": "C",
          "start": 26067
        }
      ],
      "hgvs": [
        "NG_008982.1:g.26068C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001353"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26073,
          "referenceAllele": "C",
          "start": 26072
        }
      ],
      "hgvs": [
        "NG_008982.2:g.26073C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616121"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1114,
          "referenceAllele": "C",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000415928.6:c.980C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388838.2:p.Ala327Val",
        "hgvsWellDefined": "ENSP00000388838.2:p.Ala327Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824654"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1367,
          "referenceAllele": "C",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000435065.7:c.1211C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402760.2:p.Ala404Val",
        "hgvsWellDefined": "ENSP00000402760.2:p.Ala404Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824868"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1187,
          "referenceAllele": "C",
          "start": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000448810.6:c.1053C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401860.2:p.Cys351="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824998"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1280,
          "referenceAllele": "C",
          "start": 1279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000685543.1:n.1280C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1292,
          "referenceAllele": "C",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000686757.1:c.*303C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510721.1:n.*303C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3824,
          "referenceAllele": "C",
          "start": 3823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000687740.1:n.3824C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831241"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2449,
          "referenceAllele": "C",
          "start": 2448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000688151.1:n.2449C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831464"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1120,
          "referenceAllele": "C",
          "start": 1119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000689271.1:c.986C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510797.1:p.Ala329Val",
        "hgvsWellDefined": "ENSP00000510797.1:p.Ala329Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1244,
          "referenceAllele": "C",
          "start": 1243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000690900.1:c.*303C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510703.1:n.*303C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832936"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2751,
          "referenceAllele": "C",
          "start": 2750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692212.1:n.2751C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833603"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 392,
          "referenceAllele": "C",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692355.1:c.392C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833679"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1255,
          "referenceAllele": "C",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692413.1:c.1121C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509374.1:p.Ala374Val",
        "hgvsWellDefined": "ENSP00000509374.1:p.Ala374Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833710"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1207,
          "referenceAllele": "C",
          "start": 1206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692825.1:c.1207C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509447.1:n.1207C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1321,
          "referenceAllele": "C",
          "start": 1320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000693308.1:c.1187C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509770.1:p.Ala396Val",
        "hgvsWellDefined": "ENSP00000509770.1:p.Ala396Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834175"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2299,
          "referenceAllele": "C",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000693763.1:n.2299C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1402,
          "referenceAllele": "C",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000245407.8:c.1139C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000245407.3:p.Ala380Val",
        "hgvsWellDefined": "ENSP00000245407.3:p.Ala380Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741243",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000245407.8:c.1139C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003060.4:c.1139C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000245407.3:p.Ala380Val"
          },
          "RefSeq": {
            "hgvs": "NP_003051.1:p.Ala380Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1360,
          "referenceAllele": "C",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000245407.7:c.1139C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000245407.3:p.Ala380Val",
        "hgvsWellDefined": "ENSP00000245407.3:p.Ala380Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1211,
          "referenceAllele": "C",
          "start": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000435065.6:c.1211C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402760.2:p.Ala404Val",
        "hgvsWellDefined": "ENSP00000402760.2:p.Ala404Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293343"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 111,
          "endIntronDirection": "-",
          "endIntronOffset": 1656,
          "referenceAllele": "C",
          "start": 111,
          "startIntronDirection": "-",
          "startIntronOffset": 1657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000447841.5:c.112-1657C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS299453"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 401,
          "referenceAllele": "C",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000448810.5:c.401C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS299893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8561,
          "referenceAllele": "C",
          "start": 8560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000461013.5:n.8561C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305630"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1817,
          "referenceAllele": "C",
          "start": 1816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000475308.1:n.1817C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316619"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 242,
          "referenceAllele": "C",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000479605.5:n.242C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319944"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916020813",
      "coordinates": [
        {
          "allele": "T",
          "end": 1475,
          "referenceAllele": "C",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_001308122.1:c.1211C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295051.1:p.Ala404Val",
        "hgvsWellDefined": "NP_001295051.1:p.Ala404Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658829892",
      "coordinates": [
        {
          "allele": "T",
          "end": 1403,
          "referenceAllele": "C",
          "start": 1402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_003060.3:c.1139C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003051.1:p.Ala380Val",
        "hgvsWellDefined": "NP_003051.1:p.Ala380Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 609,
          "referenceAllele": "C",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XM_011543590.1:c.521C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541892.1:p.Ala174Val",
        "hgvsWellDefined": "XP_011541892.1:p.Ala174Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110508"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1499,
          "referenceAllele": "C",
          "start": 1498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_427718.1:n.1499C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117842"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1393,
          "endIntronDirection": "-",
          "endIntronOffset": 1656,
          "referenceAllele": "C",
          "start": 1393,
          "startIntronDirection": "-",
          "startIntronOffset": 1657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948290.1:n.1394-1657C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141868"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1493,
          "referenceAllele": "C",
          "start": 1492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948291.1:n.1493C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 993,
          "referenceAllele": "C",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XM_011543590.2:c.521C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541892.1:p.Ala174Val",
        "hgvsWellDefined": "XP_011541892.1:p.Ala174Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555294"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 702,
          "referenceAllele": "C",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XM_017009778.2:c.611C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865267.1:p.Ala204Val",
        "hgvsWellDefined": "XP_016865267.1:p.Ala204Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563996"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1394,
          "referenceAllele": "C",
          "start": 1393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_001742215.1:n.1394C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591988"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1413,
          "referenceAllele": "C",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_001742216.1:n.1413C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1499,
          "referenceAllele": "C",
          "start": 1498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_427718.2:n.1499C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606473"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1393,
          "endIntronDirection": "-",
          "endIntronOffset": 1656,
          "referenceAllele": "C",
          "start": 1393,
          "startIntronDirection": "-",
          "startIntronOffset": 1657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948290.2:n.1394-1657C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1493,
          "referenceAllele": "C",
          "start": 1492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948291.2:n.1493C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614990"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658829892",
      "coordinates": [
        {
          "allele": "T",
          "end": 1402,
          "referenceAllele": "C",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_003060.4:c.1139C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003051.1:p.Ala380Val",
        "hgvsWellDefined": "NP_003051.1:p.Ala380Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695718",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000245407.8:c.1139C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003060.4:c.1139C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000245407.3:p.Ala380Val"
          },
          "RefSeq": {
            "hgvs": "NP_003051.1:p.Ala380Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916020813",
      "coordinates": [
        {
          "allele": "T",
          "end": 1474,
          "referenceAllele": "C",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_001308122.2:c.1211C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295051.1:p.Ala404Val",
        "hgvsWellDefined": "NP_001295051.1:p.Ala404Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717230"
    }
  ],
  "type": "nucleotide"
}