{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA127209308",
  "communityStandardTitle": [
    "NM_003060.4(SLC22A5):c.688T>C (p.Phe230Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=454854[alleleid]",
        "alleleId": 454854,
        "preferredName": "NM_003060.4(SLC22A5):c.688T>C (p.Phe230Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/460412",
        "RCV": [
          "RCV000556789"
        ],
        "variationId": 460412
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.131721055T>C?assembly=hg19",
        "id": "chr5:g.131721055T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.132385363T>C?assembly=hg38",
        "id": "chr5:g.132385363T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/756650860",
        "rs": 756650860
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-131721055-T-C?dataset=gnomad_r2_1",
        "id": "5-131721055-T-C",
        "variant": "5:131721055 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-132385363-T-C?dataset=gnomad_r3",
        "id": "5-132385363-T-C",
        "variant": "5:132385363 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-132385363-T-C?dataset=gnomad_r4",
        "id": "5-132385363-T-C",
        "variant": "5:132385363 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 132385363,
          "referenceAllele": "T",
          "start": 132385362
        }
      ],
      "hgvs": [
        "NC_000005.10:g.132385363T>C",
        "CM000667.2:g.132385363T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 131721055,
          "referenceAllele": "T",
          "start": 131721054
        }
      ],
      "hgvs": [
        "NC_000005.9:g.131721055T>C",
        "CM000667.1:g.131721055T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 131748954,
          "referenceAllele": "T",
          "start": 131748953
        }
      ],
      "hgvs": [
        "NC_000005.8:g.131748954T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 20655,
          "referenceAllele": "T",
          "start": 20654
        }
      ],
      "hgvs": [
        "NG_008982.1:g.20655T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001353"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 20660,
          "referenceAllele": "T",
          "start": 20659
        }
      ],
      "hgvs": [
        "NG_008982.2:g.20660T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616121"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 799,
          "endIntronDirection": "+",
          "endIntronOffset": 1049,
          "referenceAllele": "T",
          "start": 799,
          "startIntronDirection": "+",
          "startIntronOffset": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000415928.6:c.665+1049T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388838.2:n.665+1049T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824654"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 916,
          "referenceAllele": "T",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000435065.7:c.760T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402760.2:p.Phe254Leu",
        "hgvsWellDefined": "ENSP00000402760.2:p.Phe254Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824868"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 822,
          "referenceAllele": "T",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000448810.6:c.688T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401860.2:p.Phe230Leu",
        "hgvsWellDefined": "ENSP00000401860.2:p.Phe230Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824998"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 841,
          "referenceAllele": "T",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000686757.1:c.707T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510721.1:p.Ile236Thr",
        "hgvsWellDefined": "ENSP00000510721.1:p.Ile236Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830725"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1848,
          "referenceAllele": "T",
          "start": 1847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000687740.1:n.1848T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831241"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1880,
          "referenceAllele": "T",
          "start": 1879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000688151.1:n.1880T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831464"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 805,
          "endIntronDirection": "+",
          "endIntronOffset": 1043,
          "referenceAllele": "T",
          "start": 805,
          "startIntronDirection": "+",
          "startIntronOffset": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000689271.1:c.671+1043T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510797.1:n.671+1043T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832084"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 805,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "T",
          "start": 805,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000690900.1:c.672-13T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510703.1:n.672-13T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832936"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 514,
          "referenceAllele": "T",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692212.1:n.514T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833603"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 204,
          "endIntronDirection": "+",
          "endIntronOffset": 1062,
          "referenceAllele": "T",
          "start": 204,
          "startIntronDirection": "+",
          "startIntronOffset": 1061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692355.1:c.204+1062T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833679"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 841,
          "referenceAllele": "T",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692413.1:c.707T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509374.1:p.Ile236Thr",
        "hgvsWellDefined": "ENSP00000509374.1:p.Ile236Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833710"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 756,
          "referenceAllele": "T",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692825.1:c.756T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509447.1:n.756T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833907"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 835,
          "referenceAllele": "T",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000693308.1:c.701T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509770.1:p.Ile234Thr",
        "hgvsWellDefined": "ENSP00000509770.1:p.Ile234Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834175"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1848,
          "referenceAllele": "T",
          "start": 1847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000693763.1:n.1848T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834419"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 951,
          "referenceAllele": "T",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000245407.8:c.688T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000245407.3:p.Phe230Leu",
        "hgvsWellDefined": "ENSP00000245407.3:p.Phe230Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741243",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000245407.8:c.688T>C"
          },
          "RefSeq": {
            "hgvs": "NM_003060.4:c.688T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000245407.3:p.Phe230Leu"
          },
          "RefSeq": {
            "hgvs": "NP_003051.1:p.Phe230Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 909,
          "referenceAllele": "T",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000245407.7:c.688T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000245407.3:p.Phe230Leu",
        "hgvsWellDefined": "ENSP00000245407.3:p.Phe230Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249376"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 457,
          "referenceAllele": "T",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000415928.5:c.457T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388838.1:p.Phe153Leu",
        "hgvsWellDefined": "ENSP00000388838.1:p.Phe153Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284222"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 760,
          "referenceAllele": "T",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000435065.6:c.760T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402760.2:p.Phe254Leu",
        "hgvsWellDefined": "ENSP00000402760.2:p.Phe254Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293343"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 502,
          "referenceAllele": "T",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000437841.6:c.*3T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400553.1:n.*3T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294648"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 36,
          "referenceAllele": "T",
          "start": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000448810.5:c.36T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS299893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8110,
          "referenceAllele": "T",
          "start": 8109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000461013.5:n.8110T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305630"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916020763",
      "coordinates": [
        {
          "allele": "C",
          "end": 1024,
          "referenceAllele": "T",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_001308122.1:c.760T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295051.1:p.Phe254Leu",
        "hgvsWellDefined": "NP_001295051.1:p.Phe254Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658667209",
      "coordinates": [
        {
          "allele": "C",
          "end": 952,
          "referenceAllele": "T",
          "start": 951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_003060.3:c.688T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003051.1:p.Phe230Leu",
        "hgvsWellDefined": "NP_003051.1:p.Phe230Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028339"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 158,
          "referenceAllele": "T",
          "start": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XM_011543590.1:c.70T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541892.1:p.Phe24Leu",
        "hgvsWellDefined": "XP_011541892.1:p.Phe24Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110508"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1048,
          "referenceAllele": "T",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_427718.1:n.1048T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117842"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1029,
          "referenceAllele": "T",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948290.1:n.1029T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141868"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1042,
          "referenceAllele": "T",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948291.1:n.1042T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141869"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 542,
          "referenceAllele": "T",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XM_011543590.2:c.70T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541892.1:p.Phe24Leu",
        "hgvsWellDefined": "XP_011541892.1:p.Phe24Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555294"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 251,
          "referenceAllele": "T",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XM_017009778.2:c.160T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865267.1:p.Phe54Leu",
        "hgvsWellDefined": "XP_016865267.1:p.Phe54Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563996"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1029,
          "referenceAllele": "T",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_001742215.1:n.1029T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591988"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1048,
          "referenceAllele": "T",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_001742216.1:n.1048T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591989"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1048,
          "referenceAllele": "T",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_427718.2:n.1048T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606473"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1029,
          "referenceAllele": "T",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948290.2:n.1029T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614989"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1042,
          "referenceAllele": "T",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948291.2:n.1042T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614990"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658667209",
      "coordinates": [
        {
          "allele": "C",
          "end": 951,
          "referenceAllele": "T",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_003060.4:c.688T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003051.1:p.Phe230Leu",
        "hgvsWellDefined": "NP_003051.1:p.Phe230Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695718",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000245407.8:c.688T>C"
          },
          "RefSeq": {
            "hgvs": "NM_003060.4:c.688T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000245407.3:p.Phe230Leu"
          },
          "RefSeq": {
            "hgvs": "NP_003051.1:p.Phe230Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916020763",
      "coordinates": [
        {
          "allele": "C",
          "end": 1023,
          "referenceAllele": "T",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_001308122.2:c.760T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295051.1:p.Phe254Leu",
        "hgvsWellDefined": "NP_001295051.1:p.Phe254Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717230"
    }
  ],
  "type": "nucleotide"
}