{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412548598",
  "communityStandardTitle": [
    "NM_000475.5(NR0B1):c.515G>A (p.Trp172Ter)"
  ],
  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=437732[alleleid]",
        "alleleId": 437732,
        "preferredName": "NM_000475.5(NR0B1):c.515G>A (p.Trp172Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/444089",
        "RCV": [
          "RCV000513478"
        ],
        "variationId": 444089
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.30326966C>T?assembly=hg19",
        "id": "chrX:g.30326966C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.30308849C>T?assembly=hg38",
        "id": "chrX:g.30308849C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1555973132",
        "rs": 1555973132
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 30308849,
          "referenceAllele": "C",
          "start": 30308848
        }
      ],
      "hgvs": [
        "NC_000023.11:g.30308849C>T",
        "CM000685.2:g.30308849C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 30326966,
          "referenceAllele": "C",
          "start": 30326965
        }
      ],
      "hgvs": [
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        "CM000685.1:g.30326966C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 30236887,
          "referenceAllele": "C",
          "start": 30236886
        }
      ],
      "hgvs": [
        "NC_000023.9:g.30236887C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5530,
          "referenceAllele": "G",
          "start": 5529
        }
      ],
      "hgvs": [
        "NG_009814.1:g.5530G>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001651"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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          "end": 542,
          "referenceAllele": "G",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007960",
      "geneNCBI_id": 190,
      "geneSymbol": "NR0B1",
      "hgvs": [
        "ENST00000378970.5:c.515G>A"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000368253.4:p.Trp172_Ile470delinsAspArgSerTyrPheAlaGlnArgProGlyGlyLysGluAlaLeuProGlyGlyArgAlaThrAlaLeuLeuTyrArgCysCysPheCysGlyGluAspHisProGlnGlnGlySerThrLeuTyrCysValProThrSerThrAsnGlnAlaGlnAlaAlaProGluGluArgProArgAlaProTrpTrpAspThrSerSerGlyAlaLeuArgProValAlaLeuLysSerProGlnValValCysGluAlaAlaSerAlaGlyLeuLeuLysThrLeuArgPheValLysTyrLeuProCysPheGlnValLeuProLeuAspGlnGlnLeuValLeuValArgAsnCysTrpAlaSerLeuLeuMetLeuGluLeuAlaGlnAspArgLeuGlnPheGluThrValGluValSerGluProSerMetLeuGlnLysIleLeuThrThrArgArgArgGluThrGlyGlyAsnGluProLeuProValProThrLeuGlnHisHisLeuAlaProProAlaGluAlaArgLysValProSerAlaSerGlnValGlnAlaIleLysCysPheLeuSerLysCysTrpSerLeuAsnIleSerThrLysGluTyrAlaTyrLeuLysGlyThrValLeuPheAsnProAspValProGlyLeuGlnCysValLysTyrIleGlnGlyLeuGlnTrpGlyThrGlnGlnIleLeuSerGluHisThrArgMetThrHisGlnGlyProHisAspArgPheIleGluLeuAsnSerThrLeuPheLeuLeuArgPheIleAsnAlaAsnValIleAlaGluLeuPhePheArgProIleIleGlyThrValSerMetAspAspMetMetLeuGluMetLeuCysThrLysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
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          },
          "RefSeq": {
            "hgvs": "NM_000475.5:c.515G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368253.4:p.Trp172Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000466.2:p.Trp172Ter"
          }
        }
      }
    },
    {
      "coordinates": [
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          "end": 750,
          "referenceAllele": "G",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007960",
      "geneNCBI_id": 190,
      "geneSymbol": "NR0B1",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000368253.4:p.Trp172_Ile470delinsAspArgSerTyrPheAlaGlnArgProGlyGlyLysGluAlaLeuProGlyGlyArgAlaThrAlaLeuLeuTyrArgCysCysPheCysGlyGluAspHisProGlnGlnGlySerThrLeuTyrCysValProThrSerThrAsnGlnAlaGlnAlaAlaProGluGluArgProArgAlaProTrpTrpAspThrSerSerGlyAlaLeuArgProValAlaLeuLysSerProGlnValValCysGluAlaAlaSerAlaGlyLeuLeuLysThrLeuArgPheValLysTyrLeuProCysPheGlnValLeuProLeuAspGlnGlnLeuValLeuValArgAsnCysTrpAlaSerLeuLeuMetLeuGluLeuAlaGlnAspArgLeuGlnPheGluThrValGluValSerGluProSerMetLeuGlnLysIleLeuThrThrArgArgArgGluThrGlyGlyAsnGluProLeuProValProThrLeuGlnHisHisLeuAlaProProAlaGluAlaArgLysValProSerAlaSerGlnValGlnAlaIleLysCysPheLeuSerLysCysTrpSerLeuAsnIleSerThrLysGluTyrAlaTyrLeuLysGlyThrValLeuPheAsnProAspValProGlyLeuGlnCysValLysTyrIleGlnGlyLeuGlnTrpGlyThrGlnGlnIleLeuSerGluHisThrArgMetThrHisGlnGlyProHisAspArgPheIleGluLeuAsnSerThrLeuPheLeuLeuArgPheIleAsnAlaAsnValIleAlaGluLeuPhePheArgProIleIleGlyThrValSerMetAspAspMetMetLeuGluMetLeuCysThrLysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272281"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658654337",
      "coordinates": [
        {
          "allele": "A",
          "end": 530,
          "referenceAllele": "G",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007960",
      "geneNCBI_id": 190,
      "geneSymbol": "NR0B1",
      "hgvs": [
        "NM_000475.4:c.515G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000466.2:p.Trp172Ter",
        "hgvsWellDefined": "NP_000466.2:p.Trp172_Ile470delinsAspArgSerTyrPheAlaGlnArgProGlyGlyLysGluAlaLeuProGlyGlyArgAlaThrAlaLeuLeuTyrArgCysCysPheCysGlyGluAspHisProGlnGlnGlySerThrLeuTyrCysValProThrSerThrAsnGlnAlaGlnAlaAlaProGluGluArgProArgAlaProTrpTrpAspThrSerSerGlyAlaLeuArgProValAlaLeuLysSerProGlnValValCysGluAlaAlaSerAlaGlyLeuLeuLysThrLeuArgPheValLysTyrLeuProCysPheGlnValLeuProLeuAspGlnGlnLeuValLeuValArgAsnCysTrpAlaSerLeuLeuMetLeuGluLeuAlaGlnAspArgLeuGlnPheGluThrValGluValSerGluProSerMetLeuGlnLysIleLeuThrThrArgArgArgGluThrGlyGlyAsnGluProLeuProValProThrLeuGlnHisHisLeuAlaProProAlaGluAlaArgLysValProSerAlaSerGlnValGlnAlaIleLysCysPheLeuSerLysCysTrpSerLeuAsnIleSerThrLysGluTyrAlaTyrLeuLysGlyThrValLeuPheAsnProAspValProGlyLeuGlnCysValLysTyrIleGlnGlyLeuGlnTrpGlyThrGlnGlnIleLeuSerGluHisThrArgMetThrHisGlnGlyProHisAspArgPheIleGluLeuAsnSerThrLeuPheLeuLeuArgPheIleAsnAlaAsnValIleAlaGluLeuPhePheArgProIleIleGlyThrValSerMetAspAspMetMetLeuGluMetLeuCysThrLysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006529"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658654337",
      "coordinates": [
        {
          "allele": "A",
          "end": 542,
          "referenceAllele": "G",
          "start": 541
        }
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      "gene": "http://reg.genome.network/gene/GN007960",
      "geneNCBI_id": 190,
      "geneSymbol": "NR0B1",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_000466.2:p.Trp172_Ile470delinsAspArgSerTyrPheAlaGlnArgProGlyGlyLysGluAlaLeuProGlyGlyArgAlaThrAlaLeuLeuTyrArgCysCysPheCysGlyGluAspHisProGlnGlnGlySerThrLeuTyrCysValProThrSerThrAsnGlnAlaGlnAlaAlaProGluGluArgProArgAlaProTrpTrpAspThrSerSerGlyAlaLeuArgProValAlaLeuLysSerProGlnValValCysGluAlaAlaSerAlaGlyLeuLeuLysThrLeuArgPheValLysTyrLeuProCysPheGlnValLeuProLeuAspGlnGlnLeuValLeuValArgAsnCysTrpAlaSerLeuLeuMetLeuGluLeuAlaGlnAspArgLeuGlnPheGluThrValGluValSerGluProSerMetLeuGlnLysIleLeuThrThrArgArgArgGluThrGlyGlyAsnGluProLeuProValProThrLeuGlnHisHisLeuAlaProProAlaGluAlaArgLysValProSerAlaSerGlnValGlnAlaIleLysCysPheLeuSerLysCysTrpSerLeuAsnIleSerThrLysGluTyrAlaTyrLeuLysGlyThrValLeuPheAsnProAspValProGlyLeuGlnCysValLysTyrIleGlnGlyLeuGlnTrpGlyThrGlnGlnIleLeuSerGluHisThrArgMetThrHisGlnGlyProHisAspArgPheIleGluLeuAsnSerThrLeuPheLeuLeuArgPheIleAsnAlaAsnValIleAlaGluLeuPhePheArgProIleIleGlyThrValSerMetAspAspMetMetLeuGluMetLeuCysThrLysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674859",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378970.5:c.515G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000475.5:c.515G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368253.4:p.Trp172Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000466.2:p.Trp172Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}