{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA119730",
  "communityStandardTitle": [
    "NM_000901.5(NR3C2):c.1609C>T (p.Arg537Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1217799",
        "active": true,
        "id": "COSM1217799"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23594[alleleid]",
        "alleleId": 23594,
        "preferredName": "NM_000901.5(NR3C2):c.1609C>T (p.Arg537Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8555",
        "RCV": [
          "RCV000009086",
          "RCV000754683"
        ],
        "variationId": 8555
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.149356404G>A?assembly=hg19",
        "id": "chr4:g.149356404G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.148435252G>A?assembly=hg38",
        "id": "chr4:g.148435252G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912562",
        "rs": 121912562
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 148435252,
          "referenceAllele": "G",
          "start": 148435251
        }
      ],
      "hgvs": [
        "NC_000004.12:g.148435252G>A",
        "CM000666.2:g.148435252G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 149356404,
          "referenceAllele": "G",
          "start": 149356403
        }
      ],
      "hgvs": [
        "NC_000004.11:g.149356404G>A",
        "CM000666.1:g.149356404G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 149575854,
          "referenceAllele": "G",
          "start": 149575853
        }
      ],
      "hgvs": [
        "NC_000004.10:g.149575854G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12269,
          "referenceAllele": "C",
          "start": 12268
        }
      ],
      "hgvs": [
        "NG_013350.1:g.12269C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002802"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1866,
          "referenceAllele": "C",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "ENST00000358102.8:c.1609C>T"
      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749025",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358102.8:c.1609C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000901.5:c.1609C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350815.3:p.Arg537Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000892.2:p.Arg537Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1823,
          "referenceAllele": "C",
          "start": 1822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "ENST00000342437.8:c.1609C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343907.4:p.Arg537Ter",
        "hgvsWellDefined": "ENSP00000343907.4:p.Arg537_Ser706delinsSerAlaArgAspGlnSerPheGlnHisLeuSerSerPheProProValAsnThrLeuValGluSerTrpLysSerHisGlyAspLeuSerSerArgArgSerAspGlyTyrProValLeuGluTyrIleProGluAsnValSerSerSerThrLeuArgSerValSerThrGlySerSerArgProSerLysIleCysLeuValCysGlyAspGluAlaSerGlyCysHisTyrGlyValValThrCysGlySerCysLysValPhePheLysArgAlaValGluGlyGlnHisAsnTyrLeuCysAlaGlyArgAsnAspCysIleIleAspLysIleArgArgLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyGluArgArgCysIleSerLeuProCysMetAsnTyrAlaArgGlyCysThrLysSerAlaPheSerSerPheAspCysSerSerProLeuLysAsnThrProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1784,
          "referenceAllele": "C",
          "start": 1783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "ENST00000344721.8:c.1609C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341390.4:p.Arg537Ter",
        "hgvsWellDefined": "ENSP00000341390.4:p.Arg537_Lys984delinsSerAlaArgAspGlnSerPheGlnHisLeuSerSerPheProProValAsnThrLeuValGluSerTrpLysSerHisGlyAspLeuSerSerArgArgSerAspGlyTyrProValLeuGluTyrIleProGluAsnValSerSerSerThrLeuArgSerValSerThrGlySerSerArgProSerLysIleCysLeuValCysGlyAspGluAlaSerGlyCysHisTyrGlyValValThrCysGlySerCysLysValPhePheLysArgAlaValGluGlyGlnHisAsnTyrLeuCysAlaGlyArgAsnAspCysIleIleAspLysIleArgArgLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262039"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "referenceAllele": "C",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "ENST00000358102.7:c.1609C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350815.3:p.Arg537Ter",
        "hgvsWellDefined": "ENSP00000350815.3:p.Arg537_Lys984delinsSerAlaArgAspGlnSerPheGlnHisLeuSerSerPheProProValAsnThrLeuValGluSerTrpLysSerHisGlyAspLeuSerSerArgArgSerAspGlyTyrProValLeuGluTyrIleProGluAsnValSerSerSerThrLeuArgSerValSerThrGlySerSerArgProSerLysIleCysLeuValCysGlyAspGluAlaSerGlyCysHisTyrGlyValValThrCysGlySerCysLysValPhePheLysArgAlaValGluGlyGlnHisAsnTyrLeuCysAlaGlyArgAsnAspCysIleIleAspLysIleArgArgLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264335"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1609,
          "referenceAllele": "C",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "ENST00000511528.1:c.1609C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421481.1:p.Arg537Ter",
        "hgvsWellDefined": "ENSP00000421481.1:p.Arg537_Lys988delinsSerAlaArgAspGlnSerPheGlnHisLeuSerSerPheProProValAsnThrLeuValGluSerTrpLysSerHisGlyAspLeuSerSerArgArgSerAspGlyTyrProValLeuGluTyrIleProGluAsnValSerSerSerThrLeuArgSerValSerThrGlySerSerArgProSerLysIleCysLeuValCysGlyAspGluAlaSerGlyCysHisTyrGlyValValThrCysGlySerCysLysValPhePheLysArgAlaValGluGlyLysCysSerTrpGlnHisAsnTyrLeuCysAlaGlyArgAsnAspCysIleIleAspLysIleArgArgLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341776"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1676,
          "referenceAllele": "C",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "ENST00000512865.5:c.1609C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423510.1:p.Arg537Ter",
        "hgvsWellDefined": "ENSP00000423510.1:p.Arg537_Lys867delinsSerAlaArgAspGlnSerPheGlnHisLeuSerSerPheProProValAsnThrLeuValGluSerTrpLysSerHisGlyAspLeuSerSerArgArgSerAspGlyTyrProValLeuGluTyrIleProGluAsnValSerSerSerThrLeuArgSerValSerThrGlySerSerArgProSerLysIleCysLeuValCysGlyAspGluAlaSerGlyCysHisTyrGlyValValThrCysGlySerCysLysValPhePheLysArgAlaValGluGlyGlnHisAsnTyrLeuCysAlaGlyArgAsnAspCysIleIleAspLysIleArgArgLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342759"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "referenceAllele": "C",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "ENST00000625323.2:c.1609C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486719.1:p.Arg537Ter",
        "hgvsWellDefined": "ENSP00000486719.1:p.Arg537_Lys988delinsSerAlaArgAspGlnSerPheGlnHisLeuSerSerPheProProValAsnThrLeuValGluSerTrpLysSerHisGlyAspLeuSerSerArgArgSerAspGlyTyrProValLeuGluTyrIleProGluAsnValSerSerSerThrLeuArgSerValSerThrGlySerSerArgProSerLysIleCysLeuValCysGlyAspGluAlaSerGlyCysHisTyrGlyValValThrCysGlySerCysLysValPhePheLysArgAlaValGluGlyLysCysSerTrpGlnHisAsnTyrLeuCysAlaGlyArgAsnAspCysIleIleAspLysIleArgArgLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA119731",
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "referenceAllele": "C",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "NM_000901.4:c.1609C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000892.2:p.Arg537Ter",
        "hgvsWellDefined": "NP_000892.2:p.Arg537_Lys984delinsSerAlaArgAspGlnSerPheGlnHisLeuSerSerPheProProValAsnThrLeuValGluSerTrpLysSerHisGlyAspLeuSerSerArgArgSerAspGlyTyrProValLeuGluTyrIleProGluAsnValSerSerSerThrLeuArgSerValSerThrGlySerSerArgProSerLysIleCysLeuValCysGlyAspGluAlaSerGlyCysHisTyrGlyValValThrCysGlySerCysLysValPhePheLysArgAlaValGluGlyGlnHisAsnTyrLeuCysAlaGlyArgAsnAspCysIleIleAspLysIleArgArgLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006927"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826018193",
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "referenceAllele": "C",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "NM_001166104.1:c.1609C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159576.1:p.Arg537Ter",
        "hgvsWellDefined": "NP_001159576.1:p.Arg537_Lys867delinsSerAlaArgAspGlnSerPheGlnHisLeuSerSerPheProProValAsnThrLeuValGluSerTrpLysSerHisGlyAspLeuSerSerArgArgSerAspGlyTyrProValLeuGluTyrIleProGluAsnValSerSerSerThrLeuArgSerValSerThrGlySerSerArgProSerLysIleCysLeuValCysGlyAspGluAlaSerGlyCysHisTyrGlyValValThrCysGlySerCysLysValPhePheLysArgAlaValGluGlyGlnHisAsnTyrLeuCysAlaGlyArgAsnAspCysIleIleAspLysIleArgArgLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014790"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "referenceAllele": "C",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "XM_011531975.1:c.1609C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530277.1:p.Arg537Ter",
        "hgvsWellDefined": "XP_011530277.1:p.Arg537_Lys988delinsSerAlaArgAspGlnSerPheGlnHisLeuSerSerPheProProValAsnThrLeuValGluSerTrpLysSerHisGlyAspLeuSerSerArgArgSerAspGlyTyrProValLeuGluTyrIleProGluAsnValSerSerSerThrLeuArgSerValSerThrGlySerSerArgProSerLysIleCysLeuValCysGlyAspGluAlaSerGlyCysHisTyrGlyValValThrCysGlySerCysLysValPhePheLysArgAlaValGluGlyLysCysSerTrpGlnHisAsnTyrLeuCysAlaGlyArgAsnAspCysIleIleAspLysIleArgArgLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1784,
          "referenceAllele": "C",
          "start": 1783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "XM_011531976.1:c.1609C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530278.1:p.Arg537Ter",
        "hgvsWellDefined": "XP_011530278.1:p.Arg537_Lys988delinsSerAlaArgAspGlnSerPheGlnHisLeuSerSerPheProProValAsnThrLeuValGluSerTrpLysSerHisGlyAspLeuSerSerArgArgSerAspGlyTyrProValLeuGluTyrIleProGluAsnValSerSerSerThrLeuArgSerValSerThrGlySerSerArgProSerLysIleCysLeuValCysGlyAspGluAlaSerGlyCysHisTyrGlyValValThrCysGlySerCysLysValPhePheLysArgAlaValGluGlyLysCysSerTrpGlnHisAsnTyrLeuCysAlaGlyArgAsnAspCysIleIleAspLysIleArgArgLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1690,
          "referenceAllele": "C",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "XM_011531977.1:c.1609C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530279.1:p.Arg537Ter",
        "hgvsWellDefined": "XP_011530279.1:p.Arg537_Lys988delinsSerAlaArgAspGlnSerPheGlnHisLeuSerSerPheProProValAsnThrLeuValGluSerTrpLysSerHisGlyAspLeuSerSerArgArgSerAspGlyTyrProValLeuGluTyrIleProGluAsnValSerSerSerThrLeuArgSerValSerThrGlySerSerArgProSerLysIleCysLeuValCysGlyAspGluAlaSerGlyCysHisTyrGlyValValThrCysGlySerCysLysValPhePheLysArgAlaValGluGlyLysCysSerTrpGlnHisAsnTyrLeuCysAlaGlyArgAsnAspCysIleIleAspLysIleArgArgLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "referenceAllele": "C",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "XM_011531978.1:c.1609C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530280.1:p.Arg537Ter",
        "hgvsWellDefined": "XP_011530280.1:p.Arg537_Gly849delinsSerAlaArgAspGlnSerPheGlnHisLeuSerSerPheProProValAsnThrLeuValGluSerTrpLysSerHisGlyAspLeuSerSerArgArgSerAspGlyTyrProValLeuGluTyrIleProGluAsnValSerSerSerThrLeuArgSerValSerThrGlySerSerArgProSerLysIleCysLeuValCysGlyAspGluAlaSerGlyCysHisTyrGlyValValThrCysGlySerCysLysValPhePheLysArgAlaValGluGlyLysCysSerTrpGlnHisAsnTyrLeuCysAlaGlyArgAsnAspCysIleIleAspLysIleArgArgLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluLeuLeuAlaArgValArgGluGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099007"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916039474",
      "coordinates": [
        {
          "allele": "T",
          "end": 1784,
          "referenceAllele": "C",
          "start": 1783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "NM_001354819.1:c.1609C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341748.1:p.Arg537Ter",
        "hgvsWellDefined": "NP_001341748.1:p.Arg537_Lys867delinsSerAlaArgAspGlnSerPheGlnHisLeuSerSerPheProProValAsnThrLeuValGluSerTrpLysSerHisGlyAspLeuSerSerArgArgSerAspGlyTyrProValLeuGluTyrIleProGluAsnValSerSerSerThrLeuArgSerValSerThrGlySerSerArgProSerLysIleCysLeuValCysGlyAspGluAlaSerGlyCysHisTyrGlyValValThrCysGlySerCysLysValPhePheLysArgAlaValGluGlyGlnHisAsnTyrLeuCysAlaGlyArgAsnAspCysIleIleAspLysIleArgArgLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522703"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "referenceAllele": "C",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "NR_148974.1:n.1972C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "referenceAllele": "C",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "XM_011531978.2:c.1609C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530280.1:p.Arg537Ter",
        "hgvsWellDefined": "XP_011530280.1:p.Arg537_Gly849delinsSerAlaArgAspGlnSerPheGlnHisLeuSerSerPheProProValAsnThrLeuValGluSerTrpLysSerHisGlyAspLeuSerSerArgArgSerAspGlyTyrProValLeuGluTyrIleProGluAsnValSerSerSerThrLeuArgSerValSerThrGlySerSerArgProSerLysIleCysLeuValCysGlyAspGluAlaSerGlyCysHisTyrGlyValValThrCysGlySerCysLysValPhePheLysArgAlaValGluGlyLysCysSerTrpGlnHisAsnTyrLeuCysAlaGlyArgAsnAspCysIleIleAspLysIleArgArgLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluLeuLeuAlaArgValArgGluGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550644"
    },
    {
      "@id": "http://reg.genome.network/allele/PA119731",
      "coordinates": [
        {
          "allele": "T",
          "end": 1866,
          "referenceAllele": "C",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "NM_000901.5:c.1609C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000892.2:p.Arg537Ter",
        "hgvsWellDefined": "NP_000892.2:p.Arg537_Lys984delinsSerAlaArgAspGlnSerPheGlnHisLeuSerSerPheProProValAsnThrLeuValGluSerTrpLysSerHisGlyAspLeuSerSerArgArgSerAspGlyTyrProValLeuGluTyrIleProGluAsnValSerSerSerThrLeuArgSerValSerThrGlySerSerArgProSerLysIleCysLeuValCysGlyAspGluAlaSerGlyCysHisTyrGlyValValThrCysGlySerCysLysValPhePheLysArgAlaValGluGlyGlnHisAsnTyrLeuCysAlaGlyArgAsnAspCysIleIleAspLysIleArgArgLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyAlaArgLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662637",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358102.8:c.1609C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000901.5:c.1609C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350815.3:p.Arg537Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000892.2:p.Arg537Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826018193",
      "coordinates": [
        {
          "allele": "T",
          "end": 1866,
          "referenceAllele": "C",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "NM_001166104.2:c.1609C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159576.1:p.Arg537Ter",
        "hgvsWellDefined": "NP_001159576.1:p.Arg537_Lys867delinsSerAlaArgAspGlnSerPheGlnHisLeuSerSerPheProProValAsnThrLeuValGluSerTrpLysSerHisGlyAspLeuSerSerArgArgSerAspGlyTyrProValLeuGluTyrIleProGluAsnValSerSerSerThrLeuArgSerValSerThrGlySerSerArgProSerLysIleCysLeuValCysGlyAspGluAlaSerGlyCysHisTyrGlyValValThrCysGlySerCysLysValPhePheLysArgAlaValGluGlyGlnHisAsnTyrLeuCysAlaGlyArgAsnAspCysIleIleAspLysIleArgArgLysAsnCysProAlaCysArgLeuGlnLysCysLeuGlnAlaGlyMetAsnLeuGlyGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678459"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1866,
          "referenceAllele": "C",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007979",
      "geneNCBI_id": 4306,
      "geneSymbol": "NR3C2",
      "hgvs": [
        "NR_148974.2:n.1866C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704899"
    }
  ],
  "type": "nucleotide"
}