{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412547728",
  "communityStandardTitle": [
    "NM_000475.5(NR0B1):c.822C>A (p.Cys274Ter)"
  ],
  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=437723[alleleid]",
        "alleleId": 437723,
        "preferredName": "NM_000475.5(NR0B1):c.822C>A (p.Cys274Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/444080",
        "RCV": [
          "RCV000513001"
        ],
        "variationId": 444080
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.30326659G>T?assembly=hg19",
        "id": "chrX:g.30326659G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.30308542G>T?assembly=hg38",
        "id": "chrX:g.30308542G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/753734546",
        "rs": 753734546
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 30308542,
          "referenceAllele": "G",
          "start": 30308541
        }
      ],
      "hgvs": [
        "NC_000023.11:g.30308542G>T",
        "CM000685.2:g.30308542G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 30326659,
          "referenceAllele": "G",
          "start": 30326658
        }
      ],
      "hgvs": [
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        "CM000685.1:g.30326659G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 30236580,
          "referenceAllele": "G",
          "start": 30236579
        }
      ],
      "hgvs": [
        "NC_000023.9:g.30236580G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5837,
          "referenceAllele": "C",
          "start": 5836
        }
      ],
      "hgvs": [
        "NG_009814.1:g.5837C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001651"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 849,
          "referenceAllele": "C",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007960",
      "geneNCBI_id": 190,
      "geneSymbol": "NR0B1",
      "hgvs": [
        "ENST00000378970.5:c.822C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368253.4:p.Cys274Ter",
        "hgvsWellDefined": "ENSP00000368253.4:p.Cys274_Ile470delinsPheGlnValLeuProLeuAspGlnGlnLeuValLeuValArgAsnCysTrpAlaSerLeuLeuMetLeuGluLeuAlaGlnAspArgLeuGlnPheGluThrValGluValSerGluProSerMetLeuGlnLysIleLeuThrThrArgArgArgGluThrGlyGlyAsnGluProLeuProValProThrLeuGlnHisHisLeuAlaProProAlaGluAlaArgLysValProSerAlaSerGlnValGlnAlaIleLysCysPheLeuSerLysCysTrpSerLeuAsnIleSerThrLysGluTyrAlaTyrLeuLysGlyThrValLeuPheAsnProAspValProGlyLeuGlnCysValLysTyrIleGlnGlyLeuGlnTrpGlyThrGlnGlnIleLeuSerGluHisThrArgMetThrHisGlnGlyProHisAspArgPheIleGluLeuAsnSerThrLeuPheLeuLeuArgPheIleAsnAlaAsnValIleAlaGluLeuPhePheArgProIleIleGlyThrValSerMetAspAspMetMetLeuGluMetLeuCysThrLysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000378970.5:c.822C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000475.5:c.822C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368253.4:p.Cys274Ter"
          },
          "RefSeq": {
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          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1057,
          "referenceAllele": "C",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007960",
      "geneNCBI_id": 190,
      "geneSymbol": "NR0B1",
      "hgvs": [
        "ENST00000378970.4:c.822C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368253.4:p.Cys274Ter",
        "hgvsWellDefined": "ENSP00000368253.4:p.Cys274_Ile470delinsPheGlnValLeuProLeuAspGlnGlnLeuValLeuValArgAsnCysTrpAlaSerLeuLeuMetLeuGluLeuAlaGlnAspArgLeuGlnPheGluThrValGluValSerGluProSerMetLeuGlnLysIleLeuThrThrArgArgArgGluThrGlyGlyAsnGluProLeuProValProThrLeuGlnHisHisLeuAlaProProAlaGluAlaArgLysValProSerAlaSerGlnValGlnAlaIleLysCysPheLeuSerLysCysTrpSerLeuAsnIleSerThrLysGluTyrAlaTyrLeuLysGlyThrValLeuPheAsnProAspValProGlyLeuGlnCysValLysTyrIleGlnGlyLeuGlnTrpGlyThrGlnGlnIleLeuSerGluHisThrArgMetThrHisGlnGlyProHisAspArgPheIleGluLeuAsnSerThrLeuPheLeuLeuArgPheIleAsnAlaAsnValIleAlaGluLeuPhePheArgProIleIleGlyThrValSerMetAspAspMetMetLeuGluMetLeuCysThrLysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272281"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658654341",
      "coordinates": [
        {
          "allele": "A",
          "end": 837,
          "referenceAllele": "C",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007960",
      "geneNCBI_id": 190,
      "geneSymbol": "NR0B1",
      "hgvs": [
        "NM_000475.4:c.822C>A"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_000466.2:p.Cys274_Ile470delinsPheGlnValLeuProLeuAspGlnGlnLeuValLeuValArgAsnCysTrpAlaSerLeuLeuMetLeuGluLeuAlaGlnAspArgLeuGlnPheGluThrValGluValSerGluProSerMetLeuGlnLysIleLeuThrThrArgArgArgGluThrGlyGlyAsnGluProLeuProValProThrLeuGlnHisHisLeuAlaProProAlaGluAlaArgLysValProSerAlaSerGlnValGlnAlaIleLysCysPheLeuSerLysCysTrpSerLeuAsnIleSerThrLysGluTyrAlaTyrLeuLysGlyThrValLeuPheAsnProAspValProGlyLeuGlnCysValLysTyrIleGlnGlyLeuGlnTrpGlyThrGlnGlnIleLeuSerGluHisThrArgMetThrHisGlnGlyProHisAspArgPheIleGluLeuAsnSerThrLeuPheLeuLeuArgPheIleAsnAlaAsnValIleAlaGluLeuPhePheArgProIleIleGlyThrValSerMetAspAspMetMetLeuGluMetLeuCysThrLysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006529"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658654341",
      "coordinates": [
        {
          "allele": "A",
          "end": 849,
          "referenceAllele": "C",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007960",
      "geneNCBI_id": 190,
      "geneSymbol": "NR0B1",
      "hgvs": [
        "NM_000475.5:c.822C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000466.2:p.Cys274Ter",
        "hgvsWellDefined": "NP_000466.2:p.Cys274_Ile470delinsPheGlnValLeuProLeuAspGlnGlnLeuValLeuValArgAsnCysTrpAlaSerLeuLeuMetLeuGluLeuAlaGlnAspArgLeuGlnPheGluThrValGluValSerGluProSerMetLeuGlnLysIleLeuThrThrArgArgArgGluThrGlyGlyAsnGluProLeuProValProThrLeuGlnHisHisLeuAlaProProAlaGluAlaArgLysValProSerAlaSerGlnValGlnAlaIleLysCysPheLeuSerLysCysTrpSerLeuAsnIleSerThrLysGluTyrAlaTyrLeuLysGlyThrValLeuPheAsnProAspValProGlyLeuGlnCysValLysTyrIleGlnGlyLeuGlnTrpGlyThrGlnGlnIleLeuSerGluHisThrArgMetThrHisGlnGlyProHisAspArgPheIleGluLeuAsnSerThrLeuPheLeuLeuArgPheIleAsnAlaAsnValIleAlaGluLeuPhePheArgProIleIleGlyThrValSerMetAspAspMetMetLeuGluMetLeuCysThrLysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674859",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378970.5:c.822C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000475.5:c.822C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368253.4:p.Cys274Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000466.2:p.Cys274Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}