{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA234953",
  "communityStandardTitle": [
    "NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5742608",
        "active": true,
        "id": "COSM5742608"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5742609",
        "active": true,
        "id": "COSM5742609"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=36755[alleleid]",
        "alleleId": 36755,
        "preferredName": "NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/25421",
        "RCV": [
          "RCV000022377",
          "RCV000153964"
        ],
        "variationId": 25421
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-131728211-G-A",
        "id": "5-131728211-G-A",
        "variant": "5:131728211 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.131728211G>A?assembly=hg19",
        "id": "chr5:g.131728211G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.132392519G>A?assembly=hg38",
        "id": "chr5:g.132392519G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72552734",
        "rs": 72552734
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-131728211-G-A?dataset=gnomad_r2_1",
        "id": "5-131728211-G-A",
        "variant": "5:131728211 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-132392519-G-A?dataset=gnomad_r3",
        "id": "5-132392519-G-A",
        "variant": "5:132392519 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-132392519-G-A?dataset=gnomad_r4",
        "id": "5-132392519-G-A",
        "variant": "5:132392519 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 132392519,
          "referenceAllele": "G",
          "start": 132392518
        }
      ],
      "hgvs": [
        "NC_000005.10:g.132392519G>A",
        "CM000667.2:g.132392519G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 131728211,
          "referenceAllele": "G",
          "start": 131728210
        }
      ],
      "hgvs": [
        "NC_000005.9:g.131728211G>A",
        "CM000667.1:g.131728211G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 131756110,
          "referenceAllele": "G",
          "start": 131756109
        }
      ],
      "hgvs": [
        "NC_000005.8:g.131756110G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 27811,
          "referenceAllele": "G",
          "start": 27810
        }
      ],
      "hgvs": [
        "NG_008982.1:g.27811G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001353"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 27816,
          "referenceAllele": "G",
          "start": 27815
        }
      ],
      "hgvs": [
        "NG_008982.2:g.27816G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616121"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1329,
          "referenceAllele": "G",
          "start": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000415928.6:c.1195G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388838.2:p.Glu399Lys",
        "hgvsWellDefined": "ENSP00000388838.2:p.Glu399Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824654"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1582,
          "referenceAllele": "G",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000435065.7:c.1426G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402760.2:p.Glu476Lys",
        "hgvsWellDefined": "ENSP00000402760.2:p.Glu476Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1402,
          "referenceAllele": "G",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000448810.6:c.*206G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401860.2:n.*206G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824998"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1495,
          "referenceAllele": "G",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000685543.1:n.1495G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1507,
          "referenceAllele": "G",
          "start": 1506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000686757.1:c.*518G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510721.1:n.*518G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4039,
          "referenceAllele": "G",
          "start": 4038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000687740.1:n.4039G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831241"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2664,
          "referenceAllele": "G",
          "start": 2663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000688151.1:n.2664G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831464"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1335,
          "referenceAllele": "G",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000689271.1:c.1201G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510797.1:p.Glu401Lys",
        "hgvsWellDefined": "ENSP00000510797.1:p.Glu401Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1459,
          "referenceAllele": "G",
          "start": 1458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000690900.1:c.*518G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510703.1:n.*518G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832936"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4494,
          "referenceAllele": "G",
          "start": 4493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692212.1:n.4494G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833603"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 607,
          "referenceAllele": "G",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692355.1:c.607G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833679"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1470,
          "referenceAllele": "G",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692413.1:c.1336G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509374.1:p.Glu446Lys",
        "hgvsWellDefined": "ENSP00000509374.1:p.Glu446Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833710"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1422,
          "referenceAllele": "G",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692825.1:c.1422G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509447.1:n.1422G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1536,
          "referenceAllele": "G",
          "start": 1535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000693308.1:c.1402G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509770.1:p.Glu468Lys",
        "hgvsWellDefined": "ENSP00000509770.1:p.Glu468Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834175"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2514,
          "referenceAllele": "G",
          "start": 2513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000693763.1:n.2514G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834419"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1617,
          "referenceAllele": "G",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000245407.8:c.1354G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000245407.3:p.Glu452Lys",
        "hgvsWellDefined": "ENSP00000245407.3:p.Glu452Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741243",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000245407.8:c.1354G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003060.4:c.1354G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000245407.3:p.Glu452Lys"
          },
          "RefSeq": {
            "hgvs": "NP_003051.1:p.Glu452Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1575,
          "referenceAllele": "G",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000245407.7:c.1354G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000245407.3:p.Glu452Lys",
        "hgvsWellDefined": "ENSP00000245407.3:p.Glu452Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249376"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1426,
          "referenceAllele": "G",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000435065.6:c.1426G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402760.2:p.Glu476Lys",
        "hgvsWellDefined": "ENSP00000402760.2:p.Glu476Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293343"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 198,
          "referenceAllele": "G",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000447841.5:c.198G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS299453"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 616,
          "referenceAllele": "G",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000448810.5:c.616G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS299893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8776,
          "referenceAllele": "G",
          "start": 8775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000461013.5:n.8776G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2032,
          "referenceAllele": "G",
          "start": 2031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000475308.1:n.2032G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316619"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000479605.5:n.457G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319944"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916020839",
      "coordinates": [
        {
          "allele": "A",
          "end": 1690,
          "referenceAllele": "G",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_001308122.1:c.1426G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295051.1:p.Glu476Lys",
        "hgvsWellDefined": "NP_001295051.1:p.Glu476Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108236",
      "coordinates": [
        {
          "allele": "A",
          "end": 1618,
          "referenceAllele": "G",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_003060.3:c.1354G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003051.1:p.Glu452Lys",
        "hgvsWellDefined": "NP_003051.1:p.Glu452Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 824,
          "referenceAllele": "G",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XM_011543590.1:c.736G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541892.1:p.Glu246Lys",
        "hgvsWellDefined": "XP_011541892.1:p.Glu246Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110508"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1480,
          "referenceAllele": "G",
          "start": 1479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948290.1:n.1480G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1208,
          "referenceAllele": "G",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XM_011543590.2:c.736G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541892.1:p.Glu246Lys",
        "hgvsWellDefined": "XP_011541892.1:p.Glu246Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555294"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 917,
          "referenceAllele": "G",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XM_017009778.2:c.826G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865267.1:p.Glu276Lys",
        "hgvsWellDefined": "XP_016865267.1:p.Glu276Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563996"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1609,
          "referenceAllele": "G",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_001742215.1:n.1609G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591988"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1628,
          "referenceAllele": "G",
          "start": 1627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_001742216.1:n.1628G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1714,
          "referenceAllele": "G",
          "start": 1713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_427718.2:n.1714G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606473"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1480,
          "referenceAllele": "G",
          "start": 1479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948290.2:n.1480G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1708,
          "referenceAllele": "G",
          "start": 1707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948291.2:n.1708G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614990"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108236",
      "coordinates": [
        {
          "allele": "A",
          "end": 1617,
          "referenceAllele": "G",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_003060.4:c.1354G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003051.1:p.Glu452Lys",
        "hgvsWellDefined": "NP_003051.1:p.Glu452Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695718",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000245407.8:c.1354G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003060.4:c.1354G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000245407.3:p.Glu452Lys"
          },
          "RefSeq": {
            "hgvs": "NP_003051.1:p.Glu452Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916020839",
      "coordinates": [
        {
          "allele": "A",
          "end": 1689,
          "referenceAllele": "G",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_001308122.2:c.1426G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295051.1:p.Glu476Lys",
        "hgvsWellDefined": "NP_001295051.1:p.Glu476Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717230"
    }
  ],
  "type": "nucleotide"
}