{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3403947",
  "communityStandardTitle": [
    "NM_003060.4(SLC22A5):c.679C>G (p.Arg227Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2882798[alleleid]",
        "alleleId": 2882798,
        "preferredName": "NM_003060.4(SLC22A5):c.679C>G (p.Arg227Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2728772",
        "RCV": [
          "RCV003508676"
        ],
        "variationId": 2728772
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-131721046-C-G",
        "id": "5-131721046-C-G",
        "variant": "5:131721046 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.131721046C>G?assembly=hg19",
        "id": "chr5:g.131721046C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.132385354C>G?assembly=hg38",
        "id": "chr5:g.132385354C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/546902674",
        "rs": 546902674
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-131721046-C-G?dataset=gnomad_r2_1",
        "id": "5-131721046-C-G",
        "variant": "5:131721046 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-132385354-C-G?dataset=gnomad_r4",
        "id": "5-132385354-C-G",
        "variant": "5:132385354 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 132385354,
          "referenceAllele": "C",
          "start": 132385353
        }
      ],
      "hgvs": [
        "NC_000005.10:g.132385354C>G",
        "CM000667.2:g.132385354C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 131721046,
          "referenceAllele": "C",
          "start": 131721045
        }
      ],
      "hgvs": [
        "NC_000005.9:g.131721046C>G",
        "CM000667.1:g.131721046C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 131748945,
          "referenceAllele": "C",
          "start": 131748944
        }
      ],
      "hgvs": [
        "NC_000005.8:g.131748945C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 20646,
          "referenceAllele": "C",
          "start": 20645
        }
      ],
      "hgvs": [
        "NG_008982.1:g.20646C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001353"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 20651,
          "referenceAllele": "C",
          "start": 20650
        }
      ],
      "hgvs": [
        "NG_008982.2:g.20651C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616121"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 799,
          "endIntronDirection": "+",
          "endIntronOffset": 1040,
          "referenceAllele": "C",
          "start": 799,
          "startIntronDirection": "+",
          "startIntronOffset": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000415928.6:c.665+1040C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388838.2:n.665+1040C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824654"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 907,
          "referenceAllele": "C",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000435065.7:c.751C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402760.2:p.Arg251Gly",
        "hgvsWellDefined": "ENSP00000402760.2:p.Arg251Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824868"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 813,
          "referenceAllele": "C",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000448810.6:c.679C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401860.2:p.Arg227Gly",
        "hgvsWellDefined": "ENSP00000401860.2:p.Arg227Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824998"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 832,
          "referenceAllele": "C",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000686757.1:c.698C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510721.1:p.Ser233Trp",
        "hgvsWellDefined": "ENSP00000510721.1:p.Ser233Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830725"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1839,
          "referenceAllele": "C",
          "start": 1838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000687740.1:n.1839C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831241"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1871,
          "referenceAllele": "C",
          "start": 1870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000688151.1:n.1871C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831464"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 805,
          "endIntronDirection": "+",
          "endIntronOffset": 1034,
          "referenceAllele": "C",
          "start": 805,
          "startIntronDirection": "+",
          "startIntronOffset": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000689271.1:c.671+1034C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510797.1:n.671+1034C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832084"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 805,
          "endIntronDirection": "-",
          "endIntronOffset": 21,
          "referenceAllele": "C",
          "start": 805,
          "startIntronDirection": "-",
          "startIntronOffset": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000690900.1:c.672-22C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510703.1:n.672-22C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832936"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 505,
          "referenceAllele": "C",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692212.1:n.505C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833603"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 204,
          "endIntronDirection": "+",
          "endIntronOffset": 1053,
          "referenceAllele": "C",
          "start": 204,
          "startIntronDirection": "+",
          "startIntronOffset": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692355.1:c.204+1053C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833679"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 832,
          "referenceAllele": "C",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692413.1:c.698C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509374.1:p.Ser233Trp",
        "hgvsWellDefined": "ENSP00000509374.1:p.Ser233Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833710"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 747,
          "referenceAllele": "C",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692825.1:c.747C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509447.1:n.747C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833907"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 826,
          "referenceAllele": "C",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000693308.1:c.692C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509770.1:p.Ser231Trp",
        "hgvsWellDefined": "ENSP00000509770.1:p.Ser231Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834175"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1839,
          "referenceAllele": "C",
          "start": 1838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000693763.1:n.1839C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834419"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 942,
          "referenceAllele": "C",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000245407.8:c.679C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000245407.3:p.Arg227Gly",
        "hgvsWellDefined": "ENSP00000245407.3:p.Arg227Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741243",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000245407.8:c.679C>G"
          },
          "RefSeq": {
            "hgvs": "NM_003060.4:c.679C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000245407.3:p.Arg227Gly"
          },
          "RefSeq": {
            "hgvs": "NP_003051.1:p.Arg227Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 900,
          "referenceAllele": "C",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000245407.7:c.679C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000245407.3:p.Arg227Gly",
        "hgvsWellDefined": "ENSP00000245407.3:p.Arg227Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249376"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 448,
          "referenceAllele": "C",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000415928.5:c.448C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388838.1:p.Arg150Gly",
        "hgvsWellDefined": "ENSP00000388838.1:p.Arg150Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284222"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 751,
          "referenceAllele": "C",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000435065.6:c.751C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402760.2:p.Arg251Gly",
        "hgvsWellDefined": "ENSP00000402760.2:p.Arg251Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293343"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 493,
          "referenceAllele": "C",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000437841.6:c.420C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400553.1:p.Phe140Leu",
        "hgvsWellDefined": "ENSP00000400553.1:p.Phe140Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294648"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 27,
          "referenceAllele": "C",
          "start": 26
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000448810.5:c.27C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS299893"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8101,
          "referenceAllele": "C",
          "start": 8100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000461013.5:n.8101C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305630"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741856062",
      "coordinates": [
        {
          "allele": "G",
          "end": 1015,
          "referenceAllele": "C",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_001308122.1:c.751C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295051.1:p.Arg251Gly",
        "hgvsWellDefined": "NP_001295051.1:p.Arg251Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829419037",
      "coordinates": [
        {
          "allele": "G",
          "end": 943,
          "referenceAllele": "C",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_003060.3:c.679C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003051.1:p.Arg227Gly",
        "hgvsWellDefined": "NP_003051.1:p.Arg227Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028339"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 149,
          "referenceAllele": "C",
          "start": 148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XM_011543590.1:c.61C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541892.1:p.Arg21Gly",
        "hgvsWellDefined": "XP_011541892.1:p.Arg21Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110508"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1039,
          "referenceAllele": "C",
          "start": 1038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_427718.1:n.1039C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117842"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "referenceAllele": "C",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948290.1:n.1020C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141868"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1033,
          "referenceAllele": "C",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948291.1:n.1033C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141869"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 533,
          "referenceAllele": "C",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XM_011543590.2:c.61C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541892.1:p.Arg21Gly",
        "hgvsWellDefined": "XP_011541892.1:p.Arg21Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555294"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 242,
          "referenceAllele": "C",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XM_017009778.2:c.151C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865267.1:p.Arg51Gly",
        "hgvsWellDefined": "XP_016865267.1:p.Arg51Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563996"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "referenceAllele": "C",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_001742215.1:n.1020C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591988"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1039,
          "referenceAllele": "C",
          "start": 1038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_001742216.1:n.1039C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1039,
          "referenceAllele": "C",
          "start": 1038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_427718.2:n.1039C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606473"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "referenceAllele": "C",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948290.2:n.1020C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1033,
          "referenceAllele": "C",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948291.2:n.1033C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614990"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829419037",
      "coordinates": [
        {
          "allele": "G",
          "end": 942,
          "referenceAllele": "C",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_003060.4:c.679C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003051.1:p.Arg227Gly",
        "hgvsWellDefined": "NP_003051.1:p.Arg227Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695718",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000245407.8:c.679C>G"
          },
          "RefSeq": {
            "hgvs": "NM_003060.4:c.679C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000245407.3:p.Arg227Gly"
          },
          "RefSeq": {
            "hgvs": "NP_003051.1:p.Arg227Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741856062",
      "coordinates": [
        {
          "allele": "G",
          "end": 1014,
          "referenceAllele": "C",
          "start": 1013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_001308122.2:c.751C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295051.1:p.Arg251Gly",
        "hgvsWellDefined": "NP_001295051.1:p.Arg251Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717230"
    }
  ],
  "type": "nucleotide"
}