{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA130094",
  "communityStandardTitle": [
    "NM_005630.3(SLCO2A1):c.754C>T (p.Arg252Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45808[alleleid]",
        "alleleId": 45808,
        "preferredName": "NM_005630.3(SLCO2A1):c.754C>T (p.Arg252Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37168",
        "RCV": [
          "RCV003642868"
        ],
        "variationId": 37168
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-133670159-G-A",
        "id": "3-133670159-G-A",
        "variant": "3:133670159 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.133670159G>A?assembly=hg19",
        "id": "chr3:g.133670159G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.133951315G>A?assembly=hg38",
        "id": "chr3:g.133951315G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/370769816",
        "rs": 370769816
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-133670159-G-A?dataset=gnomad_r2_1",
        "id": "3-133670159-G-A",
        "variant": "3:133670159 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-133951315-G-A?dataset=gnomad_r4",
        "id": "3-133951315-G-A",
        "variant": "3:133951315 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 133951315,
          "referenceAllele": "G",
          "start": 133951314
        }
      ],
      "hgvs": [
        "NC_000003.12:g.133951315G>A",
        "CM000665.2:g.133951315G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 133670159,
          "referenceAllele": "G",
          "start": 133670158
        }
      ],
      "hgvs": [
        "NC_000003.11:g.133670159G>A",
        "CM000665.1:g.133670159G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 135152849,
          "referenceAllele": "G",
          "start": 135152848
        }
      ],
      "hgvs": [
        "NC_000003.10:g.135152849G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 105870,
          "referenceAllele": "C",
          "start": 105869
        }
      ],
      "hgvs": [
        "NG_031964.2:g.105870C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005060"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 105870,
          "referenceAllele": "C",
          "start": 105869
        }
      ],
      "hgvs": [
        "NG_031964.3:g.105870C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706144"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 877,
          "referenceAllele": "C",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "ENST00000310926.11:c.754C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311291.4:p.Arg252Ter",
        "hgvsWellDefined": "ENSP00000311291.4:p.Arg252_Ile643delinsTrpIleGlyAlaTrpTrpLeuGlyLeuLeuIleSerSerAlaLeuLeuValLeuThrSerPheProPhePhePhePheProArgAlaMetProIleGlyAlaLysArgAlaProAlaThrAlaAspGluAlaArgLysLeuGluGluAlaLysSerArgGlySerLeuValAspPheIleLysArgPheProCysIlePheLeuArgLeuLeuMetAsnSerLeuPheValLeuValValLeuAlaGlnCysThrPheSerSerValIleAlaGlyLeuSerThrPheLeuAsnLysPheLeuGluLysGlnTyrGlyThrSerAlaAlaTyrAlaAsnPheLeuIleGlyAlaValAsnLeuProAlaAlaAlaLeuGlyMetLeuPheGlyGlyIleLeuMetLysArgPheValPheSerLeuGlnAlaIleProArgIleAlaThrThrIleIleThrIleSerMetIleLeuCysValProLeuPhePheMetGlyCysSerThrProThrValAlaGluValTyrProProSerThrSerSerSerIleHisProGlnSerProAlaCysArgArgAspCysSerCysProAspSerIlePheHisProValCysGlyAspAsnGlyIleGluTyrLeuSerProCysHisAlaGlyCysSerAsnIleAsnMetSerSerAlaThrSerLysGlnLeuIleTyrLeuAsnCysSerCysValThrGlyGlySerAlaSerAlaLysThrGlySerCysProValProCysAlaHisPheLeuLeuProAlaIlePheLeuIleSerPheValSerLeuIleAlaCysIleSerHisAsnProLeuTyrMetMetValLeuArgValValAsnGlnGluGluLysSerPheAlaIleGlyValGlnPheLeuLeuMetArgLeuLeuAlaTrpLeuProSerProAlaLeuTyrGlyLeuThrIleAspHisSerCysIleArgTrpAsnSerLeuCysLeuGlyArgArgGlyAlaCysAlaTyrTyrAspAsnAspAlaLeuArgAspArgTyrLeuGlyLeuGlnMetGlyTyrLysAlaLeuGlyMetLeuLeuLeuCysPheIleSerTrpArgValLysLysAsnLysGluTyrAsnValGlnLysAlaAlaGlyLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745671",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310926.11:c.754C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005630.3:c.754C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000311291.4:p.Arg252Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005621.2:p.Arg252Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1028,
          "referenceAllele": "C",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "ENST00000310926.8:c.754C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311291.4:p.Arg252Ter",
        "hgvsWellDefined": "ENSP00000311291.4:p.Arg252_Ile643delinsTrpIleGlyAlaTrpTrpLeuGlyLeuLeuIleSerSerAlaLeuLeuValLeuThrSerPheProPhePhePhePheProArgAlaMetProIleGlyAlaLysArgAlaProAlaThrAlaAspGluAlaArgLysLeuGluGluAlaLysSerArgGlySerLeuValAspPheIleLysArgPheProCysIlePheLeuArgLeuLeuMetAsnSerLeuPheValLeuValValLeuAlaGlnCysThrPheSerSerValIleAlaGlyLeuSerThrPheLeuAsnLysPheLeuGluLysGlnTyrGlyThrSerAlaAlaTyrAlaAsnPheLeuIleGlyAlaValAsnLeuProAlaAlaAlaLeuGlyMetLeuPheGlyGlyIleLeuMetLysArgPheValPheSerLeuGlnAlaIleProArgIleAlaThrThrIleIleThrIleSerMetIleLeuCysValProLeuPhePheMetGlyCysSerThrProThrValAlaGluValTyrProProSerThrSerSerSerIleHisProGlnSerProAlaCysArgArgAspCysSerCysProAspSerIlePheHisProValCysGlyAspAsnGlyIleGluTyrLeuSerProCysHisAlaGlyCysSerAsnIleAsnMetSerSerAlaThrSerLysGlnLeuIleTyrLeuAsnCysSerCysValThrGlyGlySerAlaSerAlaLysThrGlySerCysProValProCysAlaHisPheLeuLeuProAlaIlePheLeuIleSerPheValSerLeuIleAlaCysIleSerHisAsnProLeuTyrMetMetValLeuArgValValAsnGlnGluGluLysSerPheAlaIleGlyValGlnPheLeuLeuMetArgLeuLeuAlaTrpLeuProSerProAlaLeuTyrGlyLeuThrIleAspHisSerCysIleArgTrpAsnSerLeuCysLeuGlyArgArgGlyAlaCysAlaTyrTyrAspAsnAspAlaLeuArgAspArgTyrLeuGlyLeuGlnMetGlyTyrLysAlaLeuGlyMetLeuLeuLeuCysPheIleSerTrpArgValLysLysAsnLysGluTyrAsnValGlnLysAlaAlaGlyLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 520,
          "endIntronDirection": "-",
          "endIntronOffset": 2614,
          "referenceAllele": "C",
          "start": 520,
          "startIntronDirection": "-",
          "startIntronOffset": 2615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "ENST00000462770.5:n.521-2615C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306952"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1016,
          "referenceAllele": "C",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "ENST00000464676.5:n.1016C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308448"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 875,
          "referenceAllele": "C",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "ENST00000481359.3:c.754C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420028.3:p.Arg252Ter",
        "hgvsWellDefined": "ENSP00000420028.3:p.Arg252_Thr415delinsTrpIleGlyAlaTrpTrpLeuGlyLeuLeuIleSerSerAlaLeuLeuValLeuThrSerPheProPhePhePhePheProArgAlaMetProIleGlyAlaLysArgAlaProAlaThrAlaAspGluAlaArgLysLeuGluGluAlaLysSerArgGlySerLeuValAspPheIleLysArgPheProCysIlePheLeuArgLeuLeuMetAsnSerLeuPheValLeuValValLeuAlaGlnCysThrPheSerSerValIleAlaGlyLeuSerThrPheLeuAsnLysPheLeuGluLysGlnTyrGlyThrSerAlaAlaTyrAlaAsnPheLeuIleAlaHisGlnValLeuTyrIleArgSerLeuLeuProAlaAlaGlyThrAlaArgAlaGlnIleLeuSerSerThrArgSerValGluThrMetGluSerSerThrSerProLeuAlaMetProAlaAlaAlaThrSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS321294"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 638,
          "referenceAllele": "C",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "ENST00000493729.5:c.526C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418893.1:p.Arg176Ter",
        "hgvsWellDefined": "ENSP00000418893.1:p.Arg176_Ile567delinsTrpIleGlyAlaTrpTrpLeuGlyLeuLeuIleSerSerAlaLeuLeuValLeuThrSerPheProPhePhePhePheProArgAlaMetProIleGlyAlaLysArgAlaProAlaThrAlaAspGluAlaArgLysLeuGluGluAlaLysSerArgGlySerLeuValAspPheIleLysArgPheProCysIlePheLeuArgLeuLeuMetAsnSerLeuPheValLeuValValLeuAlaGlnCysThrPheSerSerValIleAlaGlyLeuSerThrPheLeuAsnLysPheLeuGluLysGlnTyrGlyThrSerAlaAlaTyrAlaAsnPheLeuIleGlyAlaValAsnLeuProAlaAlaAlaLeuGlyMetLeuPheGlyGlyIleLeuMetLysArgPheValPheSerLeuGlnAlaIleProArgIleAlaThrThrIleIleThrIleSerMetIleLeuCysValProLeuPhePheMetGlyCysSerThrProThrValAlaGluValTyrProProSerThrSerSerSerIleHisProGlnSerProAlaCysArgArgAspCysSerCysProAspSerIlePheHisProValCysGlyAspAsnGlyIleGluTyrLeuSerProCysHisAlaGlyCysSerAsnIleAsnMetSerSerAlaThrSerLysGlnLeuIleTyrLeuAsnCysSerCysValThrGlyGlySerAlaSerAlaLysThrGlySerCysProValProCysAlaHisPheLeuLeuProAlaIlePheLeuIleSerPheValSerLeuIleAlaCysIleSerHisAsnProLeuTyrMetMetValLeuArgValValAsnGlnGluGluLysSerPheAlaIleGlyValGlnPheLeuLeuMetArgLeuLeuAlaTrpLeuProSerProAlaLeuTyrGlyLeuThrIleAspHisSerCysIleArgTrpAsnSerLeuCysLeuGlyArgArgGlyAlaCysAlaTyrTyrAspAsnAspAlaLeuArgAspArgTyrLeuGlyLeuGlnMetGlyTyrLysAlaLeuGlyMetLeuLeuLeuCysPheIleSerTrpArgValLysLysAsnLysGluTyrAsnValGlnLysAlaAlaGlyLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330820"
    },
    {
      "@id": "http://reg.genome.network/allele/PA130095",
      "coordinates": [
        {
          "allele": "T",
          "end": 1028,
          "referenceAllele": "C",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "NM_005630.2:c.754C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005621.2:p.Arg252Ter",
        "hgvsWellDefined": "NP_005621.2:p.Arg252_Ile643delinsTrpIleGlyAlaTrpTrpLeuGlyLeuLeuIleSerSerAlaLeuLeuValLeuThrSerPheProPhePhePhePheProArgAlaMetProIleGlyAlaLysArgAlaProAlaThrAlaAspGluAlaArgLysLeuGluGluAlaLysSerArgGlySerLeuValAspPheIleLysArgPheProCysIlePheLeuArgLeuLeuMetAsnSerLeuPheValLeuValValLeuAlaGlnCysThrPheSerSerValIleAlaGlyLeuSerThrPheLeuAsnLysPheLeuGluLysGlnTyrGlyThrSerAlaAlaTyrAlaAsnPheLeuIleGlyAlaValAsnLeuProAlaAlaAlaLeuGlyMetLeuPheGlyGlyIleLeuMetLysArgPheValPheSerLeuGlnAlaIleProArgIleAlaThrThrIleIleThrIleSerMetIleLeuCysValProLeuPhePheMetGlyCysSerThrProThrValAlaGluValTyrProProSerThrSerSerSerIleHisProGlnSerProAlaCysArgArgAspCysSerCysProAspSerIlePheHisProValCysGlyAspAsnGlyIleGluTyrLeuSerProCysHisAlaGlyCysSerAsnIleAsnMetSerSerAlaThrSerLysGlnLeuIleTyrLeuAsnCysSerCysValThrGlyGlySerAlaSerAlaLysThrGlySerCysProValProCysAlaHisPheLeuLeuProAlaIlePheLeuIleSerPheValSerLeuIleAlaCysIleSerHisAsnProLeuTyrMetMetValLeuArgValValAsnGlnGluGluLysSerPheAlaIleGlyValGlnPheLeuLeuMetArgLeuLeuAlaTrpLeuProSerProAlaLeuTyrGlyLeuThrIleAspHisSerCysIleArgTrpAsnSerLeuCysLeuGlyArgArgGlyAlaCysAlaTyrTyrAspAsnAspAlaLeuArgAspArgTyrLeuGlyLeuGlnMetGlyTyrLysAlaLeuGlyMetLeuLeuLeuCysPheIleSerTrpArgValLysLysAsnLysGluTyrAsnValGlnLysAlaAlaGlyLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030716"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "C",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "XM_011513090.1:c.754C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511392.1:p.Arg252Ter",
        "hgvsWellDefined": "XP_011511392.1:p.Arg252_Thr587delinsTrpIleGlyAlaTrpTrpLeuGlyLeuLeuIleSerSerAlaLeuLeuValLeuThrSerPheProPhePhePhePheProArgAlaMetProIleGlyAlaLysArgAlaProAlaThrAlaAspGluAlaArgLysLeuGluGluAlaLysSerArgGlySerLeuValAspPheIleLysArgPheProCysIlePheLeuArgLeuLeuMetAsnSerLeuPheValLeuValValLeuAlaGlnCysThrPheSerSerValIleAlaGlyLeuSerThrPheLeuAsnLysPheLeuGluLysGlnTyrGlyThrSerAlaAlaTyrAlaAsnPheLeuIleGlyAlaValAsnLeuProAlaAlaAlaLeuGlyMetLeuPheGlyGlyIleLeuMetLysArgPheValPheSerLeuGlnAlaIleProArgIleAlaThrThrIleIleThrIleSerMetIleLeuCysValProLeuPhePheMetGlyCysSerThrProThrValAlaGluValTyrProProSerThrSerSerSerIleHisProGlnSerProAlaCysArgArgAspCysSerCysProAspSerIlePheHisProValCysGlyAspAsnGlyIleGluTyrLeuSerProCysHisAlaGlyCysSerAsnIleAsnMetSerSerAlaThrSerLysGlnLeuIleTyrLeuAsnCysSerCysValThrGlyGlySerAlaSerAlaLysThrGlySerCysProValProCysAlaHisPheLeuLeuProAlaIlePheLeuIleSerPheValSerLeuIleAlaCysIleSerHisAsnProLeuTyrMetMetValLeuArgValValAsnGlnGluGluLysSerPheAlaIleGlyValGlnPheLeuLeuMetArgLeuLeuValSerGlnProArgThrProSerSerSerLeuLysSerGlyHisProHisLeuGlyAlaSerValArgThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1016,
          "referenceAllele": "C",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "XM_017007077.1:c.250C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862566.1:p.Arg84Ter",
        "hgvsWellDefined": "XP_016862566.1:p.Arg84_Ile475delinsTrpIleGlyAlaTrpTrpLeuGlyLeuLeuIleSerSerAlaLeuLeuValLeuThrSerPheProPhePhePhePheProArgAlaMetProIleGlyAlaLysArgAlaProAlaThrAlaAspGluAlaArgLysLeuGluGluAlaLysSerArgGlySerLeuValAspPheIleLysArgPheProCysIlePheLeuArgLeuLeuMetAsnSerLeuPheValLeuValValLeuAlaGlnCysThrPheSerSerValIleAlaGlyLeuSerThrPheLeuAsnLysPheLeuGluLysGlnTyrGlyThrSerAlaAlaTyrAlaAsnPheLeuIleGlyAlaValAsnLeuProAlaAlaAlaLeuGlyMetLeuPheGlyGlyIleLeuMetLysArgPheValPheSerLeuGlnAlaIleProArgIleAlaThrThrIleIleThrIleSerMetIleLeuCysValProLeuPhePheMetGlyCysSerThrProThrValAlaGluValTyrProProSerThrSerSerSerIleHisProGlnSerProAlaCysArgArgAspCysSerCysProAspSerIlePheHisProValCysGlyAspAsnGlyIleGluTyrLeuSerProCysHisAlaGlyCysSerAsnIleAsnMetSerSerAlaThrSerLysGlnLeuIleTyrLeuAsnCysSerCysValThrGlyGlySerAlaSerAlaLysThrGlySerCysProValProCysAlaHisPheLeuLeuProAlaIlePheLeuIleSerPheValSerLeuIleAlaCysIleSerHisAsnProLeuTyrMetMetValLeuArgValValAsnGlnGluGluLysSerPheAlaIleGlyValGlnPheLeuLeuMetArgLeuLeuAlaTrpLeuProSerProAlaLeuTyrGlyLeuThrIleAspHisSerCysIleArgTrpAsnSerLeuCysLeuGlyArgArgGlyAlaCysAlaTyrTyrAspAsnAspAlaLeuArgAspArgTyrLeuGlyLeuGlnMetGlyTyrLysAlaLeuGlyMetLeuLeuLeuCysPheIleSerTrpArgValLysLysAsnLysGluTyrAsnValGlnLysAlaAlaGlyLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561935"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 907,
          "referenceAllele": "C",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "XM_024453721.1:c.754C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309489.1:p.Arg252Ter",
        "hgvsWellDefined": "XP_024309489.1:p.Arg252_Thr587delinsTrpIleGlyAlaTrpTrpLeuGlyLeuLeuIleSerSerAlaLeuLeuValLeuThrSerPheProPhePhePhePheProArgAlaMetProIleGlyAlaLysArgAlaProAlaThrAlaAspGluAlaArgLysLeuGluGluAlaLysSerArgGlySerLeuValAspPheIleLysArgPheProCysIlePheLeuArgLeuLeuMetAsnSerLeuPheValLeuValValLeuAlaGlnCysThrPheSerSerValIleAlaGlyLeuSerThrPheLeuAsnLysPheLeuGluLysGlnTyrGlyThrSerAlaAlaTyrAlaAsnPheLeuIleGlyAlaValAsnLeuProAlaAlaAlaLeuGlyMetLeuPheGlyGlyIleLeuMetLysArgPheValPheSerLeuGlnAlaIleProArgIleAlaThrThrIleIleThrIleSerMetIleLeuCysValProLeuPhePheMetGlyCysSerThrProThrValAlaGluValTyrProProSerThrSerSerSerIleHisProGlnSerProAlaCysArgArgAspCysSerCysProAspSerIlePheHisProValCysGlyAspAsnGlyIleGluTyrLeuSerProCysHisAlaGlyCysSerAsnIleAsnMetSerSerAlaThrSerLysGlnLeuIleTyrLeuAsnCysSerCysValThrGlyGlySerAlaSerAlaLysThrGlySerCysProValProCysAlaHisPheLeuLeuProAlaIlePheLeuIleSerPheValSerLeuIleAlaCysIleSerHisAsnProLeuTyrMetMetValLeuArgValValAsnGlnGluGluLysSerPheAlaIleGlyValGlnPheLeuLeuMetArgLeuLeuValSerGlnProArgThrProSerSerSerLeuLysSerGlyHisProHisLeuGlyAlaSerValArgThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587096"
    },
    {
      "@id": "http://reg.genome.network/allele/PA130095",
      "coordinates": [
        {
          "allele": "T",
          "end": 877,
          "referenceAllele": "C",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "NM_005630.3:c.754C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005621.2:p.Arg252Ter",
        "hgvsWellDefined": "NP_005621.2:p.Arg252_Ile643delinsTrpIleGlyAlaTrpTrpLeuGlyLeuLeuIleSerSerAlaLeuLeuValLeuThrSerPheProPhePhePhePheProArgAlaMetProIleGlyAlaLysArgAlaProAlaThrAlaAspGluAlaArgLysLeuGluGluAlaLysSerArgGlySerLeuValAspPheIleLysArgPheProCysIlePheLeuArgLeuLeuMetAsnSerLeuPheValLeuValValLeuAlaGlnCysThrPheSerSerValIleAlaGlyLeuSerThrPheLeuAsnLysPheLeuGluLysGlnTyrGlyThrSerAlaAlaTyrAlaAsnPheLeuIleGlyAlaValAsnLeuProAlaAlaAlaLeuGlyMetLeuPheGlyGlyIleLeuMetLysArgPheValPheSerLeuGlnAlaIleProArgIleAlaThrThrIleIleThrIleSerMetIleLeuCysValProLeuPhePheMetGlyCysSerThrProThrValAlaGluValTyrProProSerThrSerSerSerIleHisProGlnSerProAlaCysArgArgAspCysSerCysProAspSerIlePheHisProValCysGlyAspAsnGlyIleGluTyrLeuSerProCysHisAlaGlyCysSerAsnIleAsnMetSerSerAlaThrSerLysGlnLeuIleTyrLeuAsnCysSerCysValThrGlyGlySerAlaSerAlaLysThrGlySerCysProValProCysAlaHisPheLeuLeuProAlaIlePheLeuIleSerPheValSerLeuIleAlaCysIleSerHisAsnProLeuTyrMetMetValLeuArgValValAsnGlnGluGluLysSerPheAlaIleGlyValGlnPheLeuLeuMetArgLeuLeuAlaTrpLeuProSerProAlaLeuTyrGlyLeuThrIleAspHisSerCysIleArgTrpAsnSerLeuCysLeuGlyArgArgGlyAlaCysAlaTyrTyrAspAsnAspAlaLeuArgAspArgTyrLeuGlyLeuGlnMetGlyTyrLysAlaLeuGlyMetLeuLeuLeuCysPheIleSerTrpArgValLysLysAsnLysGluTyrAsnValGlnLysAlaAlaGlyLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696476",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310926.11:c.754C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005630.3:c.754C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000311291.4:p.Arg252Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005621.2:p.Arg252Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}