{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA215250677",
  "communityStandardTitle": [
    "NM_000274.4(OAT):c.534G>A (p.Trp178Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=934977[alleleid]",
        "alleleId": 934977,
        "preferredName": "NM_000274.4(OAT):c.534G>A (p.Trp178Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/934801",
        "RCV": [
          "RCV001203269"
        ],
        "variationId": 934801
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.126094119C>T?assembly=hg19",
        "id": "chr10:g.126094119C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.124405550C>T?assembly=hg38",
        "id": "chr10:g.124405550C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/890106099",
        "rs": 890106099
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 124405550,
          "referenceAllele": "C",
          "start": 124405549
        }
      ],
      "hgvs": [
        "NC_000010.11:g.124405550C>T",
        "CM000672.2:g.124405550C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 126094119,
          "referenceAllele": "C",
          "start": 126094118
        }
      ],
      "hgvs": [
        "NC_000010.10:g.126094119C>T",
        "CM000672.1:g.126094119C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 126084109,
          "referenceAllele": "C",
          "start": 126084108
        }
      ],
      "hgvs": [
        "NC_000010.9:g.126084109C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 18401,
          "referenceAllele": "G",
          "start": 18400
        }
      ],
      "hgvs": [
        "NG_008861.1:g.18401G>A",
        "LRG_685:g.18401G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001256"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 614,
          "referenceAllele": "G",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "ENST00000368845.6:c.534G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357838.5:p.Trp178Ter",
        "hgvsWellDefined": "ENSP00000357838.5:p.Trp178_Phe439delinsGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750301",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368845.6:c.534G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000274.4:c.534G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357838.5:p.Trp178Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000265.1:p.Trp178Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 627,
          "referenceAllele": "G",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "ENST00000368845.5:c.534G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357838.5:p.Trp178Ter",
        "hgvsWellDefined": "ENSP00000357838.5:p.Trp178_Phe439delinsGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 335,
          "referenceAllele": "G",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "ENST00000467675.5:n.335G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310769"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 380,
          "referenceAllele": "G",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "ENST00000483711.1:n.380G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323120"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "ENST00000539214.5:c.120G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439042.1:p.Trp40Ter",
        "hgvsWellDefined": "ENSP00000439042.1:p.Trp40_Phe301delinsGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA114008",
      "coordinates": [
        {
          "allele": "A",
          "end": 667,
          "referenceAllele": "G",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_000274.3:c.534G>A",
        "LRG_685t1:c.534G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000265.1:p.Trp178Ter",
        "hgvsWellDefined": "NP_000265.1:p.Trp178_Phe439delinsGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006336"
    },
    {
      "@id": "http://reg.genome.network/allele/PA114009",
      "coordinates": [
        {
          "allele": "A",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001171814.1:c.120G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165285.1:p.Trp40Ter",
        "hgvsWellDefined": "NP_001165285.1:p.Trp40_Phe301delinsGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 701,
          "referenceAllele": "G",
          "start": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "XM_006717871.2:c.534G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717934.1:p.Trp178Ter",
        "hgvsWellDefined": "XP_006717934.1:p.Trp178_Phe439delinsGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 770,
          "referenceAllele": "G",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "XM_011539833.1:c.534G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538135.1:p.Trp178Ter",
        "hgvsWellDefined": "XP_011538135.1:p.Trp178_Phe439delinsGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106783"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 683,
          "referenceAllele": "G",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "XM_011539834.1:c.534G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538136.1:p.Trp178Ter",
        "hgvsWellDefined": "XP_011538136.1:p.Trp178_Phe439delinsGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106784"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827180898",
      "coordinates": [
        {
          "allele": "A",
          "end": 662,
          "referenceAllele": "G",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322965.1:c.534G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309894.1:p.Trp178Ter",
        "hgvsWellDefined": "NP_001309894.1:p.Trp178_Phe439delinsGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515201"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827181262",
      "coordinates": [
        {
          "allele": "A",
          "end": 982,
          "referenceAllele": "G",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322966.1:c.534G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309895.1:p.Trp178Ter",
        "hgvsWellDefined": "NP_001309895.1:p.Trp178_Phe439delinsGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515202"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827181625",
      "coordinates": [
        {
          "allele": "A",
          "end": 787,
          "referenceAllele": "G",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322967.1:c.534G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309896.1:p.Trp178Ter",
        "hgvsWellDefined": "NP_001309896.1:p.Trp178_Phe439delinsGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827181988",
      "coordinates": [
        {
          "allele": "A",
          "end": 874,
          "referenceAllele": "G",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322968.1:c.534G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309897.1:p.Trp178Ter",
        "hgvsWellDefined": "NP_001309897.1:p.Trp178_Phe439delinsGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827182350",
      "coordinates": [
        {
          "allele": "A",
          "end": 754,
          "referenceAllele": "G",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322969.1:c.534G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309898.1:p.Trp178Ter",
        "hgvsWellDefined": "NP_001309898.1:p.Trp178_Phe439delinsGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515205"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827182691",
      "coordinates": [
        {
          "allele": "A",
          "end": 970,
          "referenceAllele": "G",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322970.1:c.534G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309899.1:p.Trp178Ter",
        "hgvsWellDefined": "NP_001309899.1:p.Trp178_Phe439delinsGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916026766",
      "coordinates": [
        {
          "allele": "A",
          "end": 346,
          "referenceAllele": "G",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322971.1:c.213G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309900.1:p.Trp71Ter",
        "hgvsWellDefined": "NP_001309900.1:p.Trp71_Phe332delinsGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515207"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 553,
          "referenceAllele": "G",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322974.1:c.-67G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309903.1:n.-67G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515208"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2462,
          "referenceAllele": "G",
          "start": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "XM_017016279.1:c.-67G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871768.1:n.-67G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568769"
    },
    {
      "@id": "http://reg.genome.network/allele/PA114008",
      "coordinates": [
        {
          "allele": "A",
          "end": 614,
          "referenceAllele": "G",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_000274.4:c.534G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000265.1:p.Trp178Ter",
        "hgvsWellDefined": "NP_000265.1:p.Trp178_Phe439delinsGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674772",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368845.6:c.534G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000274.4:c.534G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357838.5:p.Trp178Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000265.1:p.Trp178Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827180898",
      "coordinates": [
        {
          "allele": "A",
          "end": 609,
          "referenceAllele": "G",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322965.2:c.534G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309894.1:p.Trp178Ter",
        "hgvsWellDefined": "NP_001309894.1:p.Trp178_Phe439delinsGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685878"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827181262",
      "coordinates": [
        {
          "allele": "A",
          "end": 929,
          "referenceAllele": "G",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322966.2:c.534G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309895.1:p.Trp178Ter",
        "hgvsWellDefined": "NP_001309895.1:p.Trp178_Phe439delinsGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827181625",
      "coordinates": [
        {
          "allele": "A",
          "end": 734,
          "referenceAllele": "G",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322967.2:c.534G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309896.1:p.Trp178Ter",
        "hgvsWellDefined": "NP_001309896.1:p.Trp178_Phe439delinsGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685880"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827181988",
      "coordinates": [
        {
          "allele": "A",
          "end": 821,
          "referenceAllele": "G",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322968.2:c.534G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309897.1:p.Trp178Ter",
        "hgvsWellDefined": "NP_001309897.1:p.Trp178_Phe439delinsGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685881"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827182350",
      "coordinates": [
        {
          "allele": "A",
          "end": 701,
          "referenceAllele": "G",
          "start": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322969.2:c.534G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309898.1:p.Trp178Ter",
        "hgvsWellDefined": "NP_001309898.1:p.Trp178_Phe439delinsGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685882"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827182691",
      "coordinates": [
        {
          "allele": "A",
          "end": 917,
          "referenceAllele": "G",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322970.2:c.534G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309899.1:p.Trp178Ter",
        "hgvsWellDefined": "NP_001309899.1:p.Trp178_Phe439delinsGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685883"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916026766",
      "coordinates": [
        {
          "allele": "A",
          "end": 293,
          "referenceAllele": "G",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322971.2:c.213G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309900.1:p.Trp71Ter",
        "hgvsWellDefined": "NP_001309900.1:p.Trp71_Phe332delinsGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685884"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 500,
          "referenceAllele": "G",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322974.2:c.-67G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309903.1:n.-67G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685885"
    },
    {
      "@id": "http://reg.genome.network/allele/PA114009",
      "coordinates": [
        {
          "allele": "A",
          "end": 386,
          "referenceAllele": "G",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001171814.2:c.120G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165285.1:p.Trp40Ter",
        "hgvsWellDefined": "NP_001165285.1:p.Trp40_Phe301delinsGlyArgThrLeuSerAlaIleSerSerSerThrAspProThrSerTyrAspGlyPheGlyProPheMetProGlyPheAspIleIleProTyrAsnAspLeuProAlaLeuGluArgAlaLeuGlnAspProAsnValAlaAlaPheMetValGluProIleGlnGlyGluAlaGlyValValValProAspProGlyTyrLeuMetGlyValArgGluLeuCysThrArgHisGlnValLeuPheIleAlaAspGluIleGlnThrGlyLeuAlaArgThrGlyArgTrpLeuAlaValAspTyrGluAsnValArgProAspIleValLeuLeuGlyLysAlaLeuSerGlyGlyLeuTyrProValSerAlaValLeuCysAspAspAspIleMetLeuThrIleLysProGlyGluHisGlySerThrTyrGlyGlyAsnProLeuGlyCysArgValAlaIleAlaAlaLeuGluValLeuGluGluGluAsnLeuAlaGluAsnAlaAspLysLeuGlyIleIleLeuArgAsnGluLeuMetLysLeuProSerAspValValThrAlaValArgGlyLysGlyLeuLeuAsnAlaIleValIleLysGluThrLysAspTrpAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713386"
    }
  ],
  "type": "nucleotide"
}