{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA360805271",
  "communityStandardTitle": [
    "NM_003060.4(SLC22A5):c.821G>A (p.Trp274Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2477652[alleleid]",
        "alleleId": 2477652,
        "preferredName": "NM_003060.4(SLC22A5):c.821G>A (p.Trp274Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2499672",
        "RCV": [
          "RCV003223597"
        ],
        "variationId": 2499672
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.131721188G>A?assembly=hg19",
        "id": "chr5:g.131721188G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.132385496G>A?assembly=hg38",
        "id": "chr5:g.132385496G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2532120947",
        "rs": 2532120947
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 132385496,
          "referenceAllele": "G",
          "start": 132385495
        }
      ],
      "hgvs": [
        "NC_000005.10:g.132385496G>A",
        "CM000667.2:g.132385496G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 131721188,
          "referenceAllele": "G",
          "start": 131721187
        }
      ],
      "hgvs": [
        "NC_000005.9:g.131721188G>A",
        "CM000667.1:g.131721188G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 131749087,
          "referenceAllele": "G",
          "start": 131749086
        }
      ],
      "hgvs": [
        "NC_000005.8:g.131749087G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 20788,
          "referenceAllele": "G",
          "start": 20787
        }
      ],
      "hgvs": [
        "NG_008982.1:g.20788G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001353"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 20793,
          "referenceAllele": "G",
          "start": 20792
        }
      ],
      "hgvs": [
        "NG_008982.2:g.20793G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616121"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 799,
          "endIntronDirection": "+",
          "endIntronOffset": 1182,
          "referenceAllele": "G",
          "start": 799,
          "startIntronDirection": "+",
          "startIntronOffset": 1181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000415928.6:c.665+1182G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388838.2:n.665+1182G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824654"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1049,
          "referenceAllele": "G",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000435065.7:c.893G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402760.2:p.Trp298Ter",
        "hgvsWellDefined": "ENSP00000402760.2:p.Trp299_Phe581delinsPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 955,
          "referenceAllele": "G",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000448810.6:c.821G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401860.2:p.Trp274Ter",
        "hgvsWellDefined": "ENSP00000401860.2:p.Trp275_Gly353delinsPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuCysAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824998"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 974,
          "referenceAllele": "G",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000686757.1:c.840G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510721.1:p.Leu280="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1981,
          "referenceAllele": "G",
          "start": 1980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000687740.1:n.1981G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831241"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2013,
          "referenceAllele": "G",
          "start": 2012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000688151.1:n.2013G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831464"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 805,
          "endIntronDirection": "+",
          "endIntronOffset": 1176,
          "referenceAllele": "G",
          "start": 805,
          "startIntronDirection": "+",
          "startIntronOffset": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000689271.1:c.671+1176G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510797.1:n.671+1176G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 926,
          "referenceAllele": "G",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000690900.1:c.792G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510703.1:p.Leu264="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832936"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 647,
          "referenceAllele": "G",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692212.1:n.647G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833603"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 204,
          "endIntronDirection": "+",
          "endIntronOffset": 1195,
          "referenceAllele": "G",
          "start": 204,
          "startIntronDirection": "+",
          "startIntronOffset": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692355.1:c.204+1195G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833679"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 974,
          "referenceAllele": "G",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692413.1:c.840G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509374.1:p.Leu280="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833710"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 889,
          "referenceAllele": "G",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692825.1:c.889G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509447.1:n.889G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 968,
          "referenceAllele": "G",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000693308.1:c.834G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509770.1:p.Leu278="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834175"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1981,
          "referenceAllele": "G",
          "start": 1980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000693763.1:n.1981G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834419"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1084,
          "referenceAllele": "G",
          "start": 1083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000245407.8:c.821G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000245407.3:p.Trp274Ter",
        "hgvsWellDefined": "ENSP00000245407.3:p.Trp275_Phe557delinsPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741243",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000245407.8:c.821G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003060.4:c.821G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000245407.3:p.Trp274Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003051.1:p.Trp274Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1042,
          "referenceAllele": "G",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000245407.7:c.821G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000245407.3:p.Trp274Ter",
        "hgvsWellDefined": "ENSP00000245407.3:p.Trp275_Phe557delinsPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249376"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 590,
          "referenceAllele": "G",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000415928.5:c.590G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388838.1:p.Trp197Ter",
        "hgvsWellDefined": "ENSP00000388838.1:p.Trp197_Glu240del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284222"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 893,
          "referenceAllele": "G",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000435065.6:c.893G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402760.2:p.Trp298Ter",
        "hgvsWellDefined": "ENSP00000402760.2:p.Trp299_Phe581delinsPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293343"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 635,
          "referenceAllele": "G",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000437841.6:c.*136G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400553.1:n.*136G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 169,
          "referenceAllele": "G",
          "start": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000448810.5:c.169G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS299893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8243,
          "referenceAllele": "G",
          "start": 8242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000461013.5:n.8243G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305630"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580195388",
      "coordinates": [
        {
          "allele": "A",
          "end": 1157,
          "referenceAllele": "G",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_001308122.1:c.893G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295051.1:p.Trp298Ter",
        "hgvsWellDefined": "NP_001295051.1:p.Trp299_Phe581delinsPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829419119",
      "coordinates": [
        {
          "allele": "A",
          "end": 1085,
          "referenceAllele": "G",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_003060.3:c.821G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003051.1:p.Trp274Ter",
        "hgvsWellDefined": "NP_003051.1:p.Trp275_Phe557delinsPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 291,
          "referenceAllele": "G",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XM_011543590.1:c.203G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541892.1:p.Trp68Ter",
        "hgvsWellDefined": "XP_011541892.1:p.Trp69_Phe351delinsPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110508"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1181,
          "referenceAllele": "G",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_427718.1:n.1181G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117842"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1162,
          "referenceAllele": "G",
          "start": 1161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948290.1:n.1162G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1175,
          "referenceAllele": "G",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948291.1:n.1175G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141869"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 675,
          "referenceAllele": "G",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XM_011543590.2:c.203G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541892.1:p.Trp68Ter",
        "hgvsWellDefined": "XP_011541892.1:p.Trp69_Phe351delinsPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555294"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 384,
          "referenceAllele": "G",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XM_017009778.2:c.293G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865267.1:p.Trp98Ter",
        "hgvsWellDefined": "XP_016865267.1:p.Trp99_Phe381delinsPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563996"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1162,
          "referenceAllele": "G",
          "start": 1161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_001742215.1:n.1162G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591988"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1181,
          "referenceAllele": "G",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_001742216.1:n.1181G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1181,
          "referenceAllele": "G",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_427718.2:n.1181G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606473"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1162,
          "referenceAllele": "G",
          "start": 1161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948290.2:n.1162G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1175,
          "referenceAllele": "G",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948291.2:n.1175G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614990"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829419119",
      "coordinates": [
        {
          "allele": "A",
          "end": 1084,
          "referenceAllele": "G",
          "start": 1083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_003060.4:c.821G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003051.1:p.Trp274Ter",
        "hgvsWellDefined": "NP_003051.1:p.Trp275_Phe557delinsPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695718",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000245407.8:c.821G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003060.4:c.821G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000245407.3:p.Trp274Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003051.1:p.Trp274Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580195388",
      "coordinates": [
        {
          "allele": "A",
          "end": 1156,
          "referenceAllele": "G",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_001308122.2:c.893G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295051.1:p.Trp298Ter",
        "hgvsWellDefined": "NP_001295051.1:p.Trp299_Phe581delinsPheIleProGluSerProArgTrpLeuIleSerGlnGlyArgPheGluGluAlaGluValIleIleArgLysAlaAlaLysAlaAsnGlyIleValValProSerThrIlePheAspProSerGluLeuGlnAspLeuSerSerLysLysGlnGlnSerHisAsnIleLeuAspLeuLeuArgThrTrpAsnIleArgMetValThrIleMetSerIleMetLeuTrpMetThrIleSerValGlyTyrPheGlyLeuSerLeuAspThrProAsnLeuHisGlyAspIlePheValAsnCysPheLeuSerAlaMetValGluValProAlaTyrValLeuAlaTrpLeuLeuLeuGlnTyrLeuProArgArgTyrSerMetAlaThrAlaLeuPheLeuGlyGlySerValLeuLeuPheMetGlnLeuValProProAspLeuTyrTyrLeuAlaThrValLeuValMetValGlyLysPheGlyValThrAlaAlaPheSerMetValTyrValTyrThrAlaGluLeuTyrProThrValValArgAsnMetGlyValGlyValSerSerThrAlaSerArgLeuGlySerIleLeuSerProTyrPheValTyrLeuGlyAlaTyrAspArgPheLeuProTyrIleLeuMetGlySerLeuThrIleLeuThrAlaIleLeuThrLeuPheLeuProGluSerPheGlyThrProLeuProAspThrIleAspGlnMetLeuArgValLysGlyMetLysHisArgLysThrProSerHisThrArgMetLeuLysAspGlyGlnGluArgProThrIleLeuLysSerThrAlaPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717230"
    }
  ],
  "type": "nucleotide"
}