{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA210111",
  "communityStandardTitle": [
    "NM_021628.3(ALOXE3):c.418C>T (p.Arg140Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=213955[alleleid]",
        "alleleId": 213955,
        "preferredName": "NM_021628.3(ALOXE3):c.418C>T (p.Arg140Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217301",
        "RCV": [
          "RCV000201260",
          "RCV000755138",
          "RCV002469062"
        ],
        "variationId": 217301
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-8018941-G-A",
        "id": "17-8018941-G-A",
        "variant": "17:8018941 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.8018941G>A?assembly=hg19",
        "id": "chr17:g.8018941G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.8115623G>A?assembly=hg38",
        "id": "chr17:g.8115623G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/370031870",
        "rs": 370031870
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-8018941-G-A?dataset=gnomad_r2_1",
        "id": "17-8018941-G-A",
        "variant": "17:8018941 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-8115623-G-A?dataset=gnomad_r3",
        "id": "17-8115623-G-A",
        "variant": "17:8115623 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-8115623-G-A?dataset=gnomad_r4",
        "id": "17-8115623-G-A",
        "variant": "17:8115623 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 8115623,
          "referenceAllele": "G",
          "start": 8115622
        }
      ],
      "hgvs": [
        "NC_000017.11:g.8115623G>A",
        "CM000679.2:g.8115623G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 8018941,
          "referenceAllele": "G",
          "start": 8018940
        }
      ],
      "hgvs": [
        "NC_000017.10:g.8018941G>A",
        "CM000679.1:g.8018941G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 7959666,
          "referenceAllele": "G",
          "start": 7959665
        }
      ],
      "hgvs": [
        "NC_000017.9:g.7959666G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8294,
          "referenceAllele": "C",
          "start": 8293
        }
      ],
      "hgvs": [
        "NG_015807.1:g.8294C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002839"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1083,
          "referenceAllele": "C",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013743",
      "geneNCBI_id": 59344,
      "geneSymbol": "ALOXE3",
      "hgvs": [
        "ENST00000318227.4:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314879.4:p.Arg140Ter",
        "hgvsWellDefined": "ENSP00000314879.4:p.Arg140_Ile711delinsGlnGluCysTyrArgTrpLysIleTyrAlaProGlyPheProCysMetValAspValAsnSerPheGlnGluMetGluSerAspLysLysPheAlaLeuThrLysThrThrThrCysValAspGlnGlyAspSerSerGlyAsnArgTyrLeuProGlyPheProMetLysIleAspIleProSerLeuMetTyrMetGluProAsnValArgTyrSerAlaThrLysThrIleSerLeuLeuPheAsnAlaIleProAlaSerLeuGlyMetLysLeuArgGlyLeuLeuAspArgLysGlySerTrpLysLysLeuAspAspMetGlnAsnIlePheTrpCysHisLysThrPheThrThrLysTyrValThrGluHisTrpCysGluAspHisPhePheGlyTyrGlnTyrLeuAsnGlyValAsnProValMetLeuHisCysIleSerSerLeuProSerLysLeuProValThrAsnAspMetValAlaProLeuLeuGlyGlnAspThrCysLeuGlnThrGluLeuGluArgGlyAsnIlePheLeuAlaAspTyrTrpIleLeuAlaGluAlaProThrHisCysLeuAsnGlyArgGlnGlnTyrValAlaAlaProLeuCysLeuLeuTrpLeuSerProGlnGlyAlaLeuValProLeuAlaIleGlnLeuSerGlnThrProGlyProAspSerProIlePheLeuProThrAspSerGluTrpAspTrpLeuLeuAlaLysThrTrpValArgAsnSerGluPheLeuValHisGluAsnAsnThrHisPheLeuCysThrHisLeuLeuCysGluAlaPheAlaMetAlaThrLeuArgGlnLeuProLeuCysHisProIleTyrLysLeuLeuLeuProHisThrArgTyrThrLeuGlnValAsnThrIleAlaArgAlaThrLeuLeuAsnProGluGlyLeuValAspGlnValThrSerIleGlyArgGlnGlyLeuIleTyrLeuMetSerThrGlyLeuAlaHisPheThrTyrThrAsnPheCysLeuProAspSerLeuArgAlaArgGlyValLeuAlaIleProAsnTyrHisTyrArgAspAspGlyLeuLysIleTrpAlaAlaIleGluSerPheValSerGluIleValGlyTyrTyrTyrProSerAspAlaSerValGlnGlnAspSerGluLeuGlnAlaTrpThrGlyGluIlePheAlaGlnAlaPheLeuGlyArgGluSerSerGlyPheProSerArgLeuCysThrProGlyGluMetValLysPheLeuThrAlaIleIlePheAsnCysSerAlaGlnHisAlaAlaValAsnSerGlyGlnHisAspPheGlyAlaTrpMetProAsnAlaProSerSerMetArgGlnProProProGlnThrLysGlyThrThrThrLeuLysThrTyrLeuAspThrLeuProGluValAsnIleSerCysAsnAsnLeuLeuLeuPheTrpLeuValSerGlnGluProLysAspGlnArgProLeuGlyThrTyrProAspGluHisPheThrGluGluAlaProArgArgSerIleAlaAlaPheGlnSerArgLeuAlaGlnIleSerArgAspIleGlnGluArgAsnGlnGlyLeuAlaLeuProTyrThrTyrLeuAspProProLeuIleGluAsnSerValSerIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746202"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 917,
          "referenceAllele": "C",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013743",
      "geneNCBI_id": 59344,
      "geneSymbol": "ALOXE3",
      "hgvs": [
        "ENST00000380149.6:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369494.2:p.Arg140Ter",
        "hgvsWellDefined": "ENSP00000369494.2:p.Arg140_Ile711delinsGlnGluCysTyrArgTrpLysIleTyrAlaProGlyPheProCysMetValAspValAsnSerPheGlnGluMetGluSerAspLysLysPheAlaLeuThrLysThrThrThrCysValAspGlnGlyAspSerSerGlyAsnArgTyrLeuProGlyPheProMetLysIleAspIleProSerLeuMetTyrMetGluProAsnValArgTyrSerAlaThrLysThrIleSerLeuLeuPheAsnAlaIleProAlaSerLeuGlyMetLysLeuArgGlyLeuLeuAspArgLysGlySerTrpLysLysLeuAspAspMetGlnAsnIlePheTrpCysHisLysThrPheThrThrLysTyrValThrGluHisTrpCysGluAspHisPhePheGlyTyrGlnTyrLeuAsnGlyValAsnProValMetLeuHisCysIleSerSerLeuProSerLysLeuProValThrAsnAspMetValAlaProLeuLeuGlyGlnAspThrCysLeuGlnThrGluLeuGluArgGlyAsnIlePheLeuAlaAspTyrTrpIleLeuAlaGluAlaProThrHisCysLeuAsnGlyArgGlnGlnTyrValAlaAlaProLeuCysLeuLeuTrpLeuSerProGlnGlyAlaLeuValProLeuAlaIleGlnLeuSerGlnThrProGlyProAspSerProIlePheLeuProThrAspSerGluTrpAspTrpLeuLeuAlaLysThrTrpValArgAsnSerGluPheLeuValHisGluAsnAsnThrHisPheLeuCysThrHisLeuLeuCysGluAlaPheAlaMetAlaThrLeuArgGlnLeuProLeuCysHisProIleTyrLysLeuLeuLeuProHisThrArgTyrThrLeuGlnValAsnThrIleAlaArgAlaThrLeuLeuAsnProGluGlyLeuValAspGlnValThrSerIleGlyArgGlnGlyLeuIleTyrLeuMetSerThrGlyLeuAlaHisPheThrTyrThrAsnPheCysLeuProAspSerLeuArgAlaArgGlyValLeuAlaIleProAsnTyrHisTyrArgAspAspGlyLeuLysIleTrpAlaAlaIleGluSerPheValSerGluIleValGlyTyrTyrTyrProSerAspAlaSerValGlnGlnAspSerGluLeuGlnAlaTrpThrGlyGluIlePheAlaGlnAlaPheLeuGlyArgGluSerSerGlyPheProSerArgLeuCysThrProGlyGluMetValLysPheLeuThrAlaIleIlePheAsnCysSerAlaGlnHisAlaAlaValAsnSerGlyGlnHisAspPheGlyAlaTrpMetProAsnAlaProSerSerMetArgGlnProProProGlnThrLysGlyThrThrThrLeuLysThrTyrLeuAspThrLeuProGluValAsnIleSerCysAsnAsnLeuLeuLeuPheTrpLeuValSerGlnGluProLysAspGlnArgProLeuGlyThrTyrProAspGluHisPheThrGluGluAlaProArgArgSerIleAlaAlaPheGlnSerArgLeuAlaGlnIleSerArgAspIleGlnGluArgAsnGlnGlyLeuAlaLeuProTyrThrTyrLeuAspProProLeuIleGluAsnSerValSerIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752342"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 760,
          "referenceAllele": "C",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013743",
      "geneNCBI_id": 59344,
      "geneSymbol": "ALOXE3",
      "hgvs": [
        "ENST00000448843.7:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400581.2:p.Arg140Ter",
        "hgvsWellDefined": "ENSP00000400581.2:p.Arg140_Ile711delinsGlnGluCysTyrArgTrpLysIleTyrAlaProGlyPheProCysMetValAspValAsnSerPheGlnGluMetGluSerAspLysLysPheAlaLeuThrLysThrThrThrCysValAspGlnGlyAspSerSerGlyAsnArgTyrLeuProGlyPheProMetLysIleAspIleProSerLeuMetTyrMetGluProAsnValArgTyrSerAlaThrLysThrIleSerLeuLeuPheAsnAlaIleProAlaSerLeuGlyMetLysLeuArgGlyLeuLeuAspArgLysGlySerTrpLysLysLeuAspAspMetGlnAsnIlePheTrpCysHisLysThrPheThrThrLysTyrValThrGluHisTrpCysGluAspHisPhePheGlyTyrGlnTyrLeuAsnGlyValAsnProValMetLeuHisCysIleSerSerLeuProSerLysLeuProValThrAsnAspMetValAlaProLeuLeuGlyGlnAspThrCysLeuGlnThrGluLeuGluArgGlyAsnIlePheLeuAlaAspTyrTrpIleLeuAlaGluAlaProThrHisCysLeuAsnGlyArgGlnGlnTyrValAlaAlaProLeuCysLeuLeuTrpLeuSerProGlnGlyAlaLeuValProLeuAlaIleGlnLeuSerGlnThrProGlyProAspSerProIlePheLeuProThrAspSerGluTrpAspTrpLeuLeuAlaLysThrTrpValArgAsnSerGluPheLeuValHisGluAsnAsnThrHisPheLeuCysThrHisLeuLeuCysGluAlaPheAlaMetAlaThrLeuArgGlnLeuProLeuCysHisProIleTyrLysLeuLeuLeuProHisThrArgTyrThrLeuGlnValAsnThrIleAlaArgAlaThrLeuLeuAsnProGluGlyLeuValAspGlnValThrSerIleGlyArgGlnGlyLeuIleTyrLeuMetSerThrGlyLeuAlaHisPheThrTyrThrAsnPheCysLeuProAspSerLeuArgAlaArgGlyValLeuAlaIleProAsnTyrHisTyrArgAspAspGlyLeuLysIleTrpAlaAlaIleGluSerPheValSerGluIleValGlyTyrTyrTyrProSerAspAlaSerValGlnGlnAspSerGluLeuGlnAlaTrpThrGlyGluIlePheAlaGlnAlaPheLeuGlyArgGluSerSerGlyPheProSerArgLeuCysThrProGlyGluMetValLysPheLeuThrAlaIleIlePheAsnCysSerAlaGlnHisAlaAlaValAsnSerGlyGlnHisAspPheGlyAlaTrpMetProAsnAlaProSerSerMetArgGlnProProProGlnThrLysGlyThrThrThrLeuLysThrTyrLeuAspThrLeuProGluValAsnIleSerCysAsnAsnLeuLeuLeuPheTrpLeuValSerGlnGluProLysAspGlnArgProLeuGlyThrTyrProAspGluHisPheThrGluGluAlaProArgArgSerIleAlaAlaPheGlnSerArgLeuAlaGlnIleSerArgAspIleGlnGluArgAsnGlnGlyLeuAlaLeuProTyrThrTyrLeuAspProProLeuIleGluAsnSerValSerIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756195",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000448843.7:c.418C>T"
          },
          "RefSeq": {
            "hgvs": "NM_021628.3:c.418C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000400581.2:p.Arg140Ter"
          },
          "RefSeq": {
            "hgvs": "NP_067641.2:p.Arg140Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1083,
          "referenceAllele": "C",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013743",
      "geneNCBI_id": 59344,
      "geneSymbol": "ALOXE3",
      "hgvs": [
        "ENST00000318227.3:c.814C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314879.3:p.Arg272Ter",
        "hgvsWellDefined": "ENSP00000314879.3:p.Arg272_Ile843delinsGlnGluCysTyrArgTrpLysIleTyrAlaProGlyPheProCysMetValAspValAsnSerPheGlnGluMetGluSerAspLysLysPheAlaLeuThrLysThrThrThrCysValAspGlnGlyAspSerSerGlyAsnArgTyrLeuProGlyPheProMetLysIleAspIleProSerLeuMetTyrMetGluProAsnValArgTyrSerAlaThrLysThrIleSerLeuLeuPheAsnAlaIleProAlaSerLeuGlyMetLysLeuArgGlyLeuLeuAspArgLysGlySerTrpLysLysLeuAspAspMetGlnAsnIlePheTrpCysHisLysThrPheThrThrLysTyrValThrGluHisTrpCysGluAspHisPhePheGlyTyrGlnTyrLeuAsnGlyValAsnProValMetLeuHisCysIleSerSerLeuProSerLysLeuProValThrAsnAspMetValAlaProLeuLeuGlyGlnAspThrCysLeuGlnThrGluLeuGluArgGlyAsnIlePheLeuAlaAspTyrTrpIleLeuAlaGluAlaProThrHisCysLeuAsnGlyArgGlnGlnTyrValAlaAlaProLeuCysLeuLeuTrpLeuSerProGlnGlyAlaLeuValProLeuAlaIleGlnLeuSerGlnThrProGlyProAspSerProIlePheLeuProThrAspSerGluTrpAspTrpLeuLeuAlaLysThrTrpValArgAsnSerGluPheLeuValHisGluAsnAsnThrHisPheLeuCysThrHisLeuLeuCysGluAlaPheAlaMetAlaThrLeuArgGlnLeuProLeuCysHisProIleTyrLysLeuLeuLeuProHisThrArgTyrThrLeuGlnValAsnThrIleAlaArgAlaThrLeuLeuAsnProGluGlyLeuValAspGlnValThrSerIleGlyArgGlnGlyLeuIleTyrLeuMetSerThrGlyLeuAlaHisPheThrTyrThrAsnPheCysLeuProAspSerLeuArgAlaArgGlyValLeuAlaIleProAsnTyrHisTyrArgAspAspGlyLeuLysIleTrpAlaAlaIleGluSerPheValSerGluIleValGlyTyrTyrTyrProSerAspAlaSerValGlnGlnAspSerGluLeuGlnAlaTrpThrGlyGluIlePheAlaGlnAlaPheLeuGlyArgGluSerSerGlyPheProSerArgLeuCysThrProGlyGluMetValLysPheLeuThrAlaIleIlePheAsnCysSerAlaGlnHisAlaAlaValAsnSerGlyGlnHisAspPheGlyAlaTrpMetProAsnAlaProSerSerMetArgGlnProProProGlnThrLysGlyThrThrThrLeuLysThrTyrLeuAspThrLeuProGluValAsnIleSerCysAsnAsnLeuLeuLeuPheTrpLeuValSerGlnGluProLysAspGlnArgProLeuGlyThrTyrProAspGluHisPheThrGluGluAlaProArgArgSerIleAlaAlaPheGlnSerArgLeuAlaGlnIleSerArgAspIleGlnGluArgAsnGlnGlyLeuAlaLeuProTyrThrTyrLeuAspProProLeuIleGluAsnSerValSerIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257504"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 917,
          "referenceAllele": "C",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013743",
      "geneNCBI_id": 59344,
      "geneSymbol": "ALOXE3",
      "hgvs": [
        "ENST00000380149.5:c.886C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369494.1:p.Arg296Ter",
        "hgvsWellDefined": "ENSP00000369494.1:p.Arg296_Ile867delinsGlnGluCysTyrArgTrpLysIleTyrAlaProGlyPheProCysMetValAspValAsnSerPheGlnGluMetGluSerAspLysLysPheAlaLeuThrLysThrThrThrCysValAspGlnGlyAspSerSerGlyAsnArgTyrLeuProGlyPheProMetLysIleAspIleProSerLeuMetTyrMetGluProAsnValArgTyrSerAlaThrLysThrIleSerLeuLeuPheAsnAlaIleProAlaSerLeuGlyMetLysLeuArgGlyLeuLeuAspArgLysGlySerTrpLysLysLeuAspAspMetGlnAsnIlePheTrpCysHisLysThrPheThrThrLysTyrValThrGluHisTrpCysGluAspHisPhePheGlyTyrGlnTyrLeuAsnGlyValAsnProValMetLeuHisCysIleSerSerLeuProSerLysLeuProValThrAsnAspMetValAlaProLeuLeuGlyGlnAspThrCysLeuGlnThrGluLeuGluArgGlyAsnIlePheLeuAlaAspTyrTrpIleLeuAlaGluAlaProThrHisCysLeuAsnGlyArgGlnGlnTyrValAlaAlaProLeuCysLeuLeuTrpLeuSerProGlnGlyAlaLeuValProLeuAlaIleGlnLeuSerGlnThrProGlyProAspSerProIlePheLeuProThrAspSerGluTrpAspTrpLeuLeuAlaLysThrTrpValArgAsnSerGluPheLeuValHisGluAsnAsnThrHisPheLeuCysThrHisLeuLeuCysGluAlaPheAlaMetAlaThrLeuArgGlnLeuProLeuCysHisProIleTyrLysLeuLeuLeuProHisThrArgTyrThrLeuGlnValAsnThrIleAlaArgAlaThrLeuLeuAsnProGluGlyLeuValAspGlnValThrSerIleGlyArgGlnGlyLeuIleTyrLeuMetSerThrGlyLeuAlaHisPheThrTyrThrAsnPheCysLeuProAspSerLeuArgAlaArgGlyValLeuAlaIleProAsnTyrHisTyrArgAspAspGlyLeuLysIleTrpAlaAlaIleGluSerPheValSerGluIleValGlyTyrTyrTyrProSerAspAlaSerValGlnGlnAspSerGluLeuGlnAlaTrpThrGlyGluIlePheAlaGlnAlaPheLeuGlyArgGluSerSerGlyPheProSerArgLeuCysThrProGlyGluMetValLysPheLeuThrAlaIleIlePheAsnCysSerAlaGlnHisAlaAlaValAsnSerGlyGlnHisAspPheGlyAlaTrpMetProAsnAlaProSerSerMetArgGlnProProProGlnThrLysGlyThrThrThrLeuLysThrTyrLeuAspThrLeuProGluValAsnIleSerCysAsnAsnLeuLeuLeuPheTrpLeuValSerGlnGluProLysAspGlnArgProLeuGlyThrTyrProAspGluHisPheThrGluGluAlaProArgArgSerIleAlaAlaPheGlnSerArgLeuAlaGlnIleSerArgAspIleGlnGluArgAsnGlnGlyLeuAlaLeuProTyrThrTyrLeuAspProProLeuIleGluAsnSerValSerIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272796"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 759,
          "referenceAllele": "C",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013743",
      "geneNCBI_id": 59344,
      "geneSymbol": "ALOXE3",
      "hgvs": [
        "ENST00000448843.6:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400581.2:p.Arg140Ter",
        "hgvsWellDefined": "ENSP00000400581.2:p.Arg140_Ile711delinsGlnGluCysTyrArgTrpLysIleTyrAlaProGlyPheProCysMetValAspValAsnSerPheGlnGluMetGluSerAspLysLysPheAlaLeuThrLysThrThrThrCysValAspGlnGlyAspSerSerGlyAsnArgTyrLeuProGlyPheProMetLysIleAspIleProSerLeuMetTyrMetGluProAsnValArgTyrSerAlaThrLysThrIleSerLeuLeuPheAsnAlaIleProAlaSerLeuGlyMetLysLeuArgGlyLeuLeuAspArgLysGlySerTrpLysLysLeuAspAspMetGlnAsnIlePheTrpCysHisLysThrPheThrThrLysTyrValThrGluHisTrpCysGluAspHisPhePheGlyTyrGlnTyrLeuAsnGlyValAsnProValMetLeuHisCysIleSerSerLeuProSerLysLeuProValThrAsnAspMetValAlaProLeuLeuGlyGlnAspThrCysLeuGlnThrGluLeuGluArgGlyAsnIlePheLeuAlaAspTyrTrpIleLeuAlaGluAlaProThrHisCysLeuAsnGlyArgGlnGlnTyrValAlaAlaProLeuCysLeuLeuTrpLeuSerProGlnGlyAlaLeuValProLeuAlaIleGlnLeuSerGlnThrProGlyProAspSerProIlePheLeuProThrAspSerGluTrpAspTrpLeuLeuAlaLysThrTrpValArgAsnSerGluPheLeuValHisGluAsnAsnThrHisPheLeuCysThrHisLeuLeuCysGluAlaPheAlaMetAlaThrLeuArgGlnLeuProLeuCysHisProIleTyrLysLeuLeuLeuProHisThrArgTyrThrLeuGlnValAsnThrIleAlaArgAlaThrLeuLeuAsnProGluGlyLeuValAspGlnValThrSerIleGlyArgGlnGlyLeuIleTyrLeuMetSerThrGlyLeuAlaHisPheThrTyrThrAsnPheCysLeuProAspSerLeuArgAlaArgGlyValLeuAlaIleProAsnTyrHisTyrArgAspAspGlyLeuLysIleTrpAlaAlaIleGluSerPheValSerGluIleValGlyTyrTyrTyrProSerAspAlaSerValGlnGlnAspSerGluLeuGlnAlaTrpThrGlyGluIlePheAlaGlnAlaPheLeuGlyArgGluSerSerGlyPheProSerArgLeuCysThrProGlyGluMetValLysPheLeuThrAlaIleIlePheAsnCysSerAlaGlnHisAlaAlaValAsnSerGlyGlnHisAspPheGlyAlaTrpMetProAsnAlaProSerSerMetArgGlnProProProGlnThrLysGlyThrThrThrLeuLysThrTyrLeuAspThrLeuProGluValAsnIleSerCysAsnAsnLeuLeuLeuPheTrpLeuValSerGlnGluProLysAspGlnArgProLeuGlyThrTyrProAspGluHisPheThrGluGluAlaProArgArgSerIleAlaAlaPheGlnSerArgLeuAlaGlnIleSerArgAspIleGlnGluArgAsnGlnGlyLeuAlaLeuProTyrThrTyrLeuAspProProLeuIleGluAsnSerValSerIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA210113",
      "coordinates": [
        {
          "allele": "T",
          "end": 952,
          "referenceAllele": "C",
          "start": 951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013743",
      "geneNCBI_id": 59344,
      "geneSymbol": "ALOXE3",
      "hgvs": [
        "NM_001165960.1:c.814C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159432.1:p.Arg272Ter",
        "hgvsWellDefined": "NP_001159432.1:p.Arg272_Ile843delinsGlnGluCysTyrArgTrpLysIleTyrAlaProGlyPheProCysMetValAspValAsnSerPheGlnGluMetGluSerAspLysLysPheAlaLeuThrLysThrThrThrCysValAspGlnGlyAspSerSerGlyAsnArgTyrLeuProGlyPheProMetLysIleAspIleProSerLeuMetTyrMetGluProAsnValArgTyrSerAlaThrLysThrIleSerLeuLeuPheAsnAlaIleProAlaSerLeuGlyMetLysLeuArgGlyLeuLeuAspArgLysGlySerTrpLysLysLeuAspAspMetGlnAsnIlePheTrpCysHisLysThrPheThrThrLysTyrValThrGluHisTrpCysGluAspHisPhePheGlyTyrGlnTyrLeuAsnGlyValAsnProValMetLeuHisCysIleSerSerLeuProSerLysLeuProValThrAsnAspMetValAlaProLeuLeuGlyGlnAspThrCysLeuGlnThrGluLeuGluArgGlyAsnIlePheLeuAlaAspTyrTrpIleLeuAlaGluAlaProThrHisCysLeuAsnGlyArgGlnGlnTyrValAlaAlaProLeuCysLeuLeuTrpLeuSerProGlnGlyAlaLeuValProLeuAlaIleGlnLeuSerGlnThrProGlyProAspSerProIlePheLeuProThrAspSerGluTrpAspTrpLeuLeuAlaLysThrTrpValArgAsnSerGluPheLeuValHisGluAsnAsnThrHisPheLeuCysThrHisLeuLeuCysGluAlaPheAlaMetAlaThrLeuArgGlnLeuProLeuCysHisProIleTyrLysLeuLeuLeuProHisThrArgTyrThrLeuGlnValAsnThrIleAlaArgAlaThrLeuLeuAsnProGluGlyLeuValAspGlnValThrSerIleGlyArgGlnGlyLeuIleTyrLeuMetSerThrGlyLeuAlaHisPheThrTyrThrAsnPheCysLeuProAspSerLeuArgAlaArgGlyValLeuAlaIleProAsnTyrHisTyrArgAspAspGlyLeuLysIleTrpAlaAlaIleGluSerPheValSerGluIleValGlyTyrTyrTyrProSerAspAlaSerValGlnGlnAspSerGluLeuGlnAlaTrpThrGlyGluIlePheAlaGlnAlaPheLeuGlyArgGluSerSerGlyPheProSerArgLeuCysThrProGlyGluMetValLysPheLeuThrAlaIleIlePheAsnCysSerAlaGlnHisAlaAlaValAsnSerGlyGlnHisAspPheGlyAlaTrpMetProAsnAlaProSerSerMetArgGlnProProProGlnThrLysGlyThrThrThrLeuLysThrTyrLeuAspThrLeuProGluValAsnIleSerCysAsnAsnLeuLeuLeuPheTrpLeuValSerGlnGluProLysAspGlnArgProLeuGlyThrTyrProAspGluHisPheThrGluGluAlaProArgArgSerIleAlaAlaPheGlnSerArgLeuAlaGlnIleSerArgAspIleGlnGluArgAsnGlnGlyLeuAlaLeuProTyrThrTyrLeuAspProProLeuIleGluAsnSerValSerIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014741"
    },
    {
      "@id": "http://reg.genome.network/allele/PA210112",
      "coordinates": [
        {
          "allele": "T",
          "end": 788,
          "referenceAllele": "C",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013743",
      "geneNCBI_id": 59344,
      "geneSymbol": "ALOXE3",
      "hgvs": [
        "NM_021628.2:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_067641.2:p.Arg140Ter",
        "hgvsWellDefined": "NP_067641.2:p.Arg140_Ile711delinsGlnGluCysTyrArgTrpLysIleTyrAlaProGlyPheProCysMetValAspValAsnSerPheGlnGluMetGluSerAspLysLysPheAlaLeuThrLysThrThrThrCysValAspGlnGlyAspSerSerGlyAsnArgTyrLeuProGlyPheProMetLysIleAspIleProSerLeuMetTyrMetGluProAsnValArgTyrSerAlaThrLysThrIleSerLeuLeuPheAsnAlaIleProAlaSerLeuGlyMetLysLeuArgGlyLeuLeuAspArgLysGlySerTrpLysLysLeuAspAspMetGlnAsnIlePheTrpCysHisLysThrPheThrThrLysTyrValThrGluHisTrpCysGluAspHisPhePheGlyTyrGlnTyrLeuAsnGlyValAsnProValMetLeuHisCysIleSerSerLeuProSerLysLeuProValThrAsnAspMetValAlaProLeuLeuGlyGlnAspThrCysLeuGlnThrGluLeuGluArgGlyAsnIlePheLeuAlaAspTyrTrpIleLeuAlaGluAlaProThrHisCysLeuAsnGlyArgGlnGlnTyrValAlaAlaProLeuCysLeuLeuTrpLeuSerProGlnGlyAlaLeuValProLeuAlaIleGlnLeuSerGlnThrProGlyProAspSerProIlePheLeuProThrAspSerGluTrpAspTrpLeuLeuAlaLysThrTrpValArgAsnSerGluPheLeuValHisGluAsnAsnThrHisPheLeuCysThrHisLeuLeuCysGluAlaPheAlaMetAlaThrLeuArgGlnLeuProLeuCysHisProIleTyrLysLeuLeuLeuProHisThrArgTyrThrLeuGlnValAsnThrIleAlaArgAlaThrLeuLeuAsnProGluGlyLeuValAspGlnValThrSerIleGlyArgGlnGlyLeuIleTyrLeuMetSerThrGlyLeuAlaHisPheThrTyrThrAsnPheCysLeuProAspSerLeuArgAlaArgGlyValLeuAlaIleProAsnTyrHisTyrArgAspAspGlyLeuLysIleTrpAlaAlaIleGluSerPheValSerGluIleValGlyTyrTyrTyrProSerAspAlaSerValGlnGlnAspSerGluLeuGlnAlaTrpThrGlyGluIlePheAlaGlnAlaPheLeuGlyArgGluSerSerGlyPheProSerArgLeuCysThrProGlyGluMetValLysPheLeuThrAlaIleIlePheAsnCysSerAlaGlnHisAlaAlaValAsnSerGlyGlnHisAspPheGlyAlaTrpMetProAsnAlaProSerSerMetArgGlnProProProGlnThrLysGlyThrThrThrLeuLysThrTyrLeuAspThrLeuProGluValAsnIleSerCysAsnAsnLeuLeuLeuPheTrpLeuValSerGlnGluProLysAspGlnArgProLeuGlyThrTyrProAspGluHisPheThrGluGluAlaProArgArgSerIleAlaAlaPheGlnSerArgLeuAlaGlnIleSerArgAspIleGlnGluArgAsnGlnGlyLeuAlaLeuProTyrThrTyrLeuAspProProLeuIleGluAsnSerValSerIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036987"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 691,
          "referenceAllele": "C",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013743",
      "geneNCBI_id": 59344,
      "geneSymbol": "ALOXE3",
      "hgvs": [
        "XM_017024921.2:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880410.1:p.Arg140Ter",
        "hgvsWellDefined": "XP_016880410.1:p.Arg140_Asn615delinsGlnGluCysTyrArgTrpLysIleTyrAlaProGlyPheProCysMetValAspValAsnSerPheGlnGluMetGluSerAspLysLysPheAlaLeuThrLysThrThrThrCysValAspGlnGlyAspSerSerGlyAsnArgTyrLeuProGlyPheProMetLysIleAspIleProSerLeuMetTyrMetGluProAsnValArgTyrSerAlaThrLysThrIleSerLeuLeuPheAsnAlaIleProAlaSerLeuGlyMetLysLeuArgGlyLeuLeuAspArgLysGlySerTrpLysLysLeuAspAspMetGlnAsnIlePheTrpCysHisLysThrPheThrThrLysTyrValThrGluHisTrpCysGluAspHisPhePheGlyTyrGlnTyrLeuAsnGlyValAsnProValMetLeuHisCysIleSerSerLeuProSerLysLeuProValThrAsnAspMetValAlaProLeuLeuGlyGlnAspThrCysLeuGlnThrGluLeuGluArgGlyAsnIlePheLeuAlaAspTyrTrpIleLeuAlaGluAlaProThrHisCysLeuAsnGlyArgGlnGlnTyrValAlaAlaProLeuCysLeuLeuTrpLeuSerProGlnGlyAlaLeuValProLeuAlaIleGlnLeuSerGlnThrProGlyProAspSerProIlePheLeuProThrAspSerGluTrpAspTrpLeuLeuAlaLysThrTrpValArgAsnSerGluPheLeuValHisGluAsnAsnThrHisPheLeuCysThrHisLeuLeuCysGluAlaPheAlaMetAlaThrLeuArgGlnLeuProLeuCysHisProIleTyrLysLeuLeuLeuProHisThrArgTyrThrLeuGlnValAsnThrIleAlaArgAlaThrLeuLeuAsnProGluGlyLeuValAspGlnValThrSerIleGlyArgGlnGlyLeuIleTyrLeuMetSerThrGlyLeuAlaHisPheThrTyrThrAsnPheCysLeuProAspSerLeuArgAlaArgGlyValLeuAlaIleProAsnTyrHisTyrArgAspAspGlyLeuLysIleTrpAlaAlaIleGluSerPheValSerGluIleValGlyTyrTyrTyrProSerAspAlaSerValGlnGlnAspSerGluLeuGlnAlaTrpThrGlyGluIlePheAlaGlnAlaPheLeuGlyArgGluSerSerGlyPheProSerArgLeuCysThrProGlyGluMetValLysPheLeuThrAlaIleIlePheAsnCysSerAlaGlnHisAlaAlaValAsnSerGlyGlnAspGlyArgGlyGlyIleArgAspGlyGluGluGlyGlyAspThrProLeuLeuAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575362"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 691,
          "referenceAllele": "C",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013743",
      "geneNCBI_id": 59344,
      "geneSymbol": "ALOXE3",
      "hgvs": [
        "XM_017024922.2:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880411.1:p.Arg140Ter",
        "hgvsWellDefined": "XP_016880411.1:p.Arg140_Trp563delinsGlnGluCysTyrArgTrpLysIleTyrAlaProGlyPheProCysMetValAspValAsnSerPheGlnGluMetGluSerAspLysLysPheAlaLeuThrLysThrThrThrCysValAspGlnGlyAspSerSerGlyAsnArgTyrLeuProGlyPheProMetLysIleAspIleProSerLeuMetTyrMetGluProAsnValArgTyrSerAlaThrLysThrIleSerLeuLeuPheAsnAlaIleProAlaSerLeuGlyMetLysLeuArgGlyLeuLeuAspArgLysGlySerTrpLysLysLeuAspAspMetGlnAsnIlePheTrpCysHisLysThrPheThrThrLysTyrValThrGluHisTrpCysGluAspHisPhePheGlyTyrGlnTyrLeuAsnGlyValAsnProValMetLeuHisCysIleSerSerLeuProSerLysLeuProValThrAsnAspMetValAlaProLeuLeuGlyGlnAspThrCysLeuGlnThrGluLeuGluArgGlyAsnIlePheLeuAlaAspTyrTrpIleLeuAlaGluAlaProThrHisCysLeuAsnGlyArgGlnGlnTyrValAlaAlaProLeuCysLeuLeuTrpLeuSerProGlnGlyAlaLeuValProLeuAlaIleGlnLeuSerGlnThrProGlyProAspSerProIlePheLeuProThrAspSerGluTrpAspTrpLeuLeuAlaLysThrTrpValArgAsnSerGluPheLeuValHisGluAsnAsnThrHisPheLeuCysThrHisLeuLeuCysGluAlaPheAlaMetAlaThrLeuArgGlnLeuProLeuCysHisProIleTyrLysLeuLeuLeuProHisThrArgTyrThrLeuGlnValAsnThrIleAlaArgAlaThrLeuLeuAsnProGluGlyLeuValAspGlnValThrSerIleGlyArgGlnGlyLeuIleTyrLeuMetSerThrGlyLeuAlaHisPheThrTyrThrAsnPheCysLeuProAspSerLeuArgAlaArgGlyValLeuAlaIleProAsnTyrHisTyrArgAspAspGlyLeuLysIleTrpAlaAlaIleGluArgPheProLysProAlaValHisProArgArgAspGlyGluValProHisCysAsnHisLeuGlnLeuLeuCysProAlaArgCysCysGlnGlnTrpAlaGlyArgGlnArgTrpAsnGlnGlyTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575363"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 691,
          "referenceAllele": "C",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013743",
      "geneNCBI_id": 59344,
      "geneSymbol": "ALOXE3",
      "hgvs": [
        "XM_017024923.2:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880412.1:p.Arg140Ter",
        "hgvsWellDefined": "XP_016880412.1:p.Arg140_Thr539delinsGlnGluCysTyrArgTrpLysIleTyrAlaProGlyPheProCysMetValAspValAsnSerPheGlnGluMetGluSerAspLysLysPheAlaLeuThrLysThrThrThrCysValAspGlnGlyAspSerSerGlyAsnArgTyrLeuProGlyPheProMetLysIleAspIleProSerLeuMetTyrMetGluProAsnValArgTyrSerAlaThrLysThrIleSerLeuLeuPheAsnAlaIleProAlaSerLeuGlyMetLysLeuArgGlyLeuLeuAspArgLysGlySerTrpLysLysLeuAspAspMetGlnAsnIlePheTrpCysHisLysThrPheThrThrLysTyrValThrGluHisTrpCysGluAspHisPhePheGlyTyrGlnTyrLeuAsnGlyValAsnProValMetLeuHisCysIleSerSerLeuProSerLysLeuProValThrAsnAspMetValAlaProLeuLeuGlyGlnAspThrCysLeuGlnThrGluLeuGluArgGlyAsnIlePheLeuAlaAspTyrTrpIleLeuAlaGluAlaProThrHisCysLeuAsnGlyArgGlnGlnTyrValAlaAlaProLeuCysLeuLeuTrpLeuSerProGlnGlyAlaLeuValProLeuAlaIleGlnLeuSerGlnThrProGlyProAspSerProIlePheLeuProThrAspSerGluTrpAspTrpLeuLeuAlaLysThrTrpValArgAsnSerGluPheLeuValHisGluAsnAsnThrHisPheLeuCysThrHisLeuLeuCysGluAlaPheAlaMetAlaThrLeuArgGlnLeuProLeuCysHisProIleTyrLysLeuLeuLeuProHisThrArgTyrThrLeuGlnValAsnThrIleAlaArgAlaThrLeuLeuAsnProGluGlyLeuValAspGlnValThrSerIleGlyArgGlnGlyLeuIleTyrLeuMetSerThrGlyLeuAlaHisPheThrTyrThrAsnPheCysLeuProAspSerLeuArgAlaArgGlyValLeuAlaIleProAsnTyrHisTyrArgAspAspGlyLeuLysIleTrpAlaAlaIleGluArgProLeuCysArgLysGluValTrpSerThrHisGlySerGlyValSerGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575364"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 691,
          "referenceAllele": "C",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013743",
      "geneNCBI_id": 59344,
      "geneSymbol": "ALOXE3",
      "hgvs": [
        "XM_017024924.2:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880413.1:p.Arg140Ter",
        "hgvsWellDefined": "XP_016880413.1:p.Arg140_His489delinsGlnGluCysTyrArgTrpLysIleTyrAlaProGlyPheProCysMetValAspValAsnSerPheGlnGluMetGluSerAspLysLysPheAlaLeuThrLysThrThrThrCysValAspGlnGlyAspSerSerGlyAsnArgTyrLeuProGlyPheProMetLysIleAspIleProSerLeuMetTyrMetGluProAsnValArgTyrSerAlaThrLysThrIleSerLeuLeuPheAsnAlaIleProAlaSerLeuGlyMetLysLeuArgGlyLeuLeuAspArgLysGlySerTrpLysLysLeuAspAspMetGlnAsnIlePheTrpCysHisLysThrPheThrThrLysTyrValThrGluHisTrpCysGluAspHisPhePheGlyTyrGlnTyrLeuAsnGlyValAsnProValMetLeuHisCysIleSerSerLeuProSerLysLeuProValThrAsnAspMetValAlaProLeuLeuGlyGlnAspThrCysLeuGlnThrGluLeuGluArgGlyAsnIlePheLeuAlaAspTyrTrpIleLeuAlaGluAlaProThrHisCysLeuAsnGlyArgGlnGlnTyrValAlaAlaProLeuCysLeuLeuTrpLeuSerProGlnGlyAlaLeuValProLeuAlaIleGlnLeuSerGlnThrProGlyProAspSerProIlePheLeuProThrAspSerGluTrpAspTrpLeuLeuAlaLysThrTrpValArgAsnSerGluPheLeuValHisGluAsnAsnThrHisPheLeuCysThrHisLeuLeuCysGluAlaPheAlaMetAlaThrLeuArgGlnLeuProLeuCysHisProIleTyrLysLeuLeuLeuProHisThrArgTyrThrLeuGlnValAsnThrIleAlaArgAlaThrLeuLeuAsnProGluGlyLeuValAspGlnProAlaGlyProArgArgProGlyTyrProGlnLeuProLeuProArgArgArgProGluAspLeuGlyGlyHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 691,
          "referenceAllele": "C",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013743",
      "geneNCBI_id": 59344,
      "geneSymbol": "ALOXE3",
      "hgvs": [
        "XM_017024925.2:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880414.1:p.Arg140Ter",
        "hgvsWellDefined": "XP_016880414.1:p.Arg140_His489delinsGlnGluCysTyrArgTrpLysIleTyrAlaProGlyPheProCysMetValAspValAsnSerPheGlnGluMetGluSerAspLysLysPheAlaLeuThrLysThrThrThrCysValAspGlnGlyAspSerSerGlyAsnArgTyrLeuProGlyPheProMetLysIleAspIleProSerLeuMetTyrMetGluProAsnValArgTyrSerAlaThrLysThrIleSerLeuLeuPheAsnAlaIleProAlaSerLeuGlyMetLysLeuArgGlyLeuLeuAspArgLysGlySerTrpLysLysLeuAspAspMetGlnAsnIlePheTrpCysHisLysThrPheThrThrLysTyrValThrGluHisTrpCysGluAspHisPhePheGlyTyrGlnTyrLeuAsnGlyValAsnProValMetLeuHisCysIleSerSerLeuProSerLysLeuProValThrAsnAspMetValAlaProLeuLeuGlyGlnAspThrCysLeuGlnThrGluLeuGluArgGlyAsnIlePheLeuAlaAspTyrTrpIleLeuAlaGluAlaProThrHisCysLeuAsnGlyArgGlnGlnTyrValAlaAlaProLeuCysLeuLeuTrpLeuSerProGlnGlyAlaLeuValProLeuAlaIleGlnLeuSerGlnThrProGlyProAspSerProIlePheLeuProThrAspSerGluTrpAspTrpLeuLeuAlaLysThrTrpValArgAsnSerGluPheLeuValHisGluAsnAsnThrHisPheLeuCysThrHisLeuLeuCysGluAlaPheAlaMetAlaThrLeuArgGlnLeuProLeuCysHisProIleTyrLysLeuLeuLeuProHisThrArgTyrThrLeuGlnValAsnThrIleAlaArgAlaThrLeuLeuAsnProGluGlyLeuValAspGlnProAlaGlyProArgArgProGlyTyrProGlnLeuProLeuProArgArgArgProGluAspLeuGlyGlyHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575366"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 691,
          "referenceAllele": "C",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013743",
      "geneNCBI_id": 59344,
      "geneSymbol": "ALOXE3",
      "hgvs": [
        "XR_001752579.2:n.691C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599262"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 691,
          "referenceAllele": "C",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013743",
      "geneNCBI_id": 59344,
      "geneSymbol": "ALOXE3",
      "hgvs": [
        "XR_001752580.2:n.691C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599263"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828331346",
      "coordinates": [
        {
          "allele": "T",
          "end": 731,
          "referenceAllele": "C",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013743",
      "geneNCBI_id": 59344,
      "geneSymbol": "ALOXE3",
      "hgvs": [
        "NM_001369446.1:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356375.1:p.Arg140Ter",
        "hgvsWellDefined": "NP_001356375.1:p.Arg140_Ile710delinsGlnGluCysTyrArgTrpLysIleTyrAlaProGlyPheProCysMetValAspValAsnSerPheGlnGluMetGluSerAspLysLysPheAlaLeuThrLysThrThrThrCysValAspGlnGlyAspSerGlyAsnArgTyrLeuProGlyPheProMetLysIleAspIleProSerLeuMetTyrMetGluProAsnValArgTyrSerAlaThrLysThrIleSerLeuLeuPheAsnAlaIleProAlaSerLeuGlyMetLysLeuArgGlyLeuLeuAspArgLysGlySerTrpLysLysLeuAspAspMetGlnAsnIlePheTrpCysHisLysThrPheThrThrLysTyrValThrGluHisTrpCysGluAspHisPhePheGlyTyrGlnTyrLeuAsnGlyValAsnProValMetLeuHisCysIleSerSerLeuProSerLysLeuProValThrAsnAspMetValAlaProLeuLeuGlyGlnAspThrCysLeuGlnThrGluLeuGluArgGlyAsnIlePheLeuAlaAspTyrTrpIleLeuAlaGluAlaProThrHisCysLeuAsnGlyArgGlnGlnTyrValAlaAlaProLeuCysLeuLeuTrpLeuSerProGlnGlyAlaLeuValProLeuAlaIleGlnLeuSerGlnThrProGlyProAspSerProIlePheLeuProThrAspSerGluTrpAspTrpLeuLeuAlaLysThrTrpValArgAsnSerGluPheLeuValHisGluAsnAsnThrHisPheLeuCysThrHisLeuLeuCysGluAlaPheAlaMetAlaThrLeuArgGlnLeuProLeuCysHisProIleTyrLysLeuLeuLeuProHisThrArgTyrThrLeuGlnValAsnThrIleAlaArgAlaThrLeuLeuAsnProGluGlyLeuValAspGlnValThrSerIleGlyArgGlnGlyLeuIleTyrLeuMetSerThrGlyLeuAlaHisPheThrTyrThrAsnPheCysLeuProAspSerLeuArgAlaArgGlyValLeuAlaIleProAsnTyrHisTyrArgAspAspGlyLeuLysIleTrpAlaAlaIleGluSerPheValSerGluIleValGlyTyrTyrTyrProSerAspAlaSerValGlnGlnAspSerGluLeuGlnAlaTrpThrGlyGluIlePheAlaGlnAlaPheLeuGlyArgGluSerSerGlyPheProSerArgLeuCysThrProGlyGluMetValLysPheLeuThrAlaIleIlePheAsnCysSerAlaGlnHisAlaAlaValAsnSerGlyGlnHisAspPheGlyAlaTrpMetProAsnAlaProSerSerMetArgGlnProProProGlnThrLysGlyThrThrThrLeuLysThrTyrLeuAspThrLeuProGluValAsnIleSerCysAsnAsnLeuLeuLeuPheTrpLeuValSerGlnGluProLysAspGlnArgProLeuGlyThrTyrProAspGluHisPheThrGluGluAlaProArgArgSerIleAlaAlaPheGlnSerArgLeuAlaGlnIleSerArgAspIleGlnGluArgAsnGlnGlyLeuAlaLeuProTyrThrTyrLeuAspProProLeuIleGluAsnSerValSerIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691670"
    },
    {
      "@id": "http://reg.genome.network/allele/PA210112",
      "coordinates": [
        {
          "allele": "T",
          "end": 760,
          "referenceAllele": "C",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013743",
      "geneNCBI_id": 59344,
      "geneSymbol": "ALOXE3",
      "hgvs": [
        "NM_021628.3:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_067641.2:p.Arg140Ter",
        "hgvsWellDefined": "NP_067641.2:p.Arg140_Ile711delinsGlnGluCysTyrArgTrpLysIleTyrAlaProGlyPheProCysMetValAspValAsnSerPheGlnGluMetGluSerAspLysLysPheAlaLeuThrLysThrThrThrCysValAspGlnGlyAspSerSerGlyAsnArgTyrLeuProGlyPheProMetLysIleAspIleProSerLeuMetTyrMetGluProAsnValArgTyrSerAlaThrLysThrIleSerLeuLeuPheAsnAlaIleProAlaSerLeuGlyMetLysLeuArgGlyLeuLeuAspArgLysGlySerTrpLysLysLeuAspAspMetGlnAsnIlePheTrpCysHisLysThrPheThrThrLysTyrValThrGluHisTrpCysGluAspHisPhePheGlyTyrGlnTyrLeuAsnGlyValAsnProValMetLeuHisCysIleSerSerLeuProSerLysLeuProValThrAsnAspMetValAlaProLeuLeuGlyGlnAspThrCysLeuGlnThrGluLeuGluArgGlyAsnIlePheLeuAlaAspTyrTrpIleLeuAlaGluAlaProThrHisCysLeuAsnGlyArgGlnGlnTyrValAlaAlaProLeuCysLeuLeuTrpLeuSerProGlnGlyAlaLeuValProLeuAlaIleGlnLeuSerGlnThrProGlyProAspSerProIlePheLeuProThrAspSerGluTrpAspTrpLeuLeuAlaLysThrTrpValArgAsnSerGluPheLeuValHisGluAsnAsnThrHisPheLeuCysThrHisLeuLeuCysGluAlaPheAlaMetAlaThrLeuArgGlnLeuProLeuCysHisProIleTyrLysLeuLeuLeuProHisThrArgTyrThrLeuGlnValAsnThrIleAlaArgAlaThrLeuLeuAsnProGluGlyLeuValAspGlnValThrSerIleGlyArgGlnGlyLeuIleTyrLeuMetSerThrGlyLeuAlaHisPheThrTyrThrAsnPheCysLeuProAspSerLeuArgAlaArgGlyValLeuAlaIleProAsnTyrHisTyrArgAspAspGlyLeuLysIleTrpAlaAlaIleGluSerPheValSerGluIleValGlyTyrTyrTyrProSerAspAlaSerValGlnGlnAspSerGluLeuGlnAlaTrpThrGlyGluIlePheAlaGlnAlaPheLeuGlyArgGluSerSerGlyPheProSerArgLeuCysThrProGlyGluMetValLysPheLeuThrAlaIleIlePheAsnCysSerAlaGlnHisAlaAlaValAsnSerGlyGlnHisAspPheGlyAlaTrpMetProAsnAlaProSerSerMetArgGlnProProProGlnThrLysGlyThrThrThrLeuLysThrTyrLeuAspThrLeuProGluValAsnIleSerCysAsnAsnLeuLeuLeuPheTrpLeuValSerGlnGluProLysAspGlnArgProLeuGlyThrTyrProAspGluHisPheThrGluGluAlaProArgArgSerIleAlaAlaPheGlnSerArgLeuAlaGlnIleSerArgAspIleGlnGluArgAsnGlnGlyLeuAlaLeuProTyrThrTyrLeuAspProProLeuIleGluAsnSerValSerIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000448843.7:c.418C>T"
          },
          "RefSeq": {
            "hgvs": "NM_021628.3:c.418C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000400581.2:p.Arg140Ter"
          },
          "RefSeq": {
            "hgvs": "NP_067641.2:p.Arg140Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}