{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA388163841",
  "communityStandardTitle": [
    "NM_000321.3(RB1):c.1633G>T (p.Glu545Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=947795",
        "active": true,
        "id": "COSM947795"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1587096",
        "active": true,
        "id": "COSM1587096"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=966604[alleleid]",
        "alleleId": 966604,
        "preferredName": "NM_000321.3(RB1):c.1633G>T (p.Glu545Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/978456",
        "RCV": [
          "RCV001257128",
          "RCV002402800"
        ],
        "variationId": 978456
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.48955517G>T?assembly=hg19",
        "id": "chr13:g.48955517G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.48381381G>T?assembly=hg38",
        "id": "chr13:g.48381381G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1948534542",
        "rs": 1948534542
      }
    ]
  },
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    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 48381381,
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          "start": 48381380
        }
      ],
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      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
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          "start": 48955516
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      ],
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      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
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          "end": 47853518,
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      ],
      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 82635,
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          "start": 82634
        }
      ],
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        "LRG_517:g.82635G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001377"
    }
  ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742979",
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            "hgvs": "NM_000321.3:c.1633G>T"
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        },
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            "hgvs": "NP_000312.2:p.Glu545Ter"
          }
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      }
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    {
      "coordinates": [
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          "start": 131
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      "referenceSequence": "http://reg.genome.network/refseq/RS767072"
    },
    {
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1771,
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          "start": 1770
        }
      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247284"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139671944",
      "coordinates": [
        {
          "allele": "T",
          "end": 1799,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1387,
          "referenceAllele": "G",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
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      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011533473.1:p.Glu458_Lys841delinsMetIleLysHisLeuGluArgCysGluHisArgIleMetGluSerLeuAlaTrpLeuSerAspSerProLeuPheAspLeuIleLysGlnSerLysAspArgGluGlyProThrAspHisLeuGluSerAlaCysProLeuAsnLeuProLeuGlnAsnAsnHisThrAlaAlaAspMetTyrLeuSerProValArgSerProLysLysLysGlySerThrThrArgValAsnSerThrAlaAsnAlaGluThrGlnAlaThrSerAlaPheGlnThrGlnLysProLeuLysSerThrSerLeuSerLeuPheTyrLysLysValTyrArgLeuAlaTyrLeuArgLeuAsnThrLeuCysGluArgLeuLeuSerGluHisProGluLeuGluHisIleIleTrpThrLeuPheGlnHisThrLeuGlnAsnGluTyrGluLeuMetArgAspArgHisLeuAspGlnIleMetMetCysSerMetTyrGlyIleCysLysValLysAsnIleAspLeuLysPheLysIleIleValThrAlaTyrLysAspLeuProHisAlaValGlnGluThrPheLysArgValLeuIleLysGluGluGluTyrAspSerIleIleValPheTyrAsnSerValPheMetGlnArgLeuLysThrAsnIleLeuGlnTyrAlaSerThrArgProProThrLeuSerProIleProHisIleProArgSerProTyrLysPheProSerSerProLeuArgIleProGlyGlyAsnIleTyrIleSerProLeuLysSerProTyrLysIleSerGluGlyLeuProThrProThrLysMetThrProArgSerArgIleLeuValSerIleGlyGluSerPheGlyThrSerGluLysPheGlnLysIleAsnGlnMetValCysAsnSerAspArgValLeuLysArgSerAlaGluGlySerAsnProProLysProLeuLysLysLeuArgPheAspIleGluGlySerAspGluAlaAspGlySerLysHisLeuProGlyGluSerLysPheGlnGlnLysLeuAlaGluMetThrSerThrArgThrArgMetGlnLysGlnLysMetAsnAspSerMetAspThrSerAsnLysGluGluLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102180"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1388,
          "referenceAllele": "G",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "XM_011535171.2:c.1372G>T"
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      "proteinEffect": {
        "hgvs": "XP_011533473.1:p.Glu458Ter",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551929"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139671944",
      "coordinates": [
        {
          "allele": "T",
          "end": 1795,
          "referenceAllele": "G",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "NM_000321.3:c.1633G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000312.2:p.Glu545Ter",
        "hgvsWellDefined": "NP_000312.2:p.Glu545_Lys928delinsMetIleLysHisLeuGluArgCysGluHisArgIleMetGluSerLeuAlaTrpLeuSerAspSerProLeuPheAspLeuIleLysGlnSerLysAspArgGluGlyProThrAspHisLeuGluSerAlaCysProLeuAsnLeuProLeuGlnAsnAsnHisThrAlaAlaAspMetTyrLeuSerProValArgSerProLysLysLysGlySerThrThrArgValAsnSerThrAlaAsnAlaGluThrGlnAlaThrSerAlaPheGlnThrGlnLysProLeuLysSerThrSerLeuSerLeuPheTyrLysLysValTyrArgLeuAlaTyrLeuArgLeuAsnThrLeuCysGluArgLeuLeuSerGluHisProGluLeuGluHisIleIleTrpThrLeuPheGlnHisThrLeuGlnAsnGluTyrGluLeuMetArgAspArgHisLeuAspGlnIleMetMetCysSerMetTyrGlyIleCysLysValLysAsnIleAspLeuLysPheLysIleIleValThrAlaTyrLysAspLeuProHisAlaValGlnGluThrPheLysArgValLeuIleLysGluGluGluTyrAspSerIleIleValPheTyrAsnSerValPheMetGlnArgLeuLysThrAsnIleLeuGlnTyrAlaSerThrArgProProThrLeuSerProIleProHisIleProArgSerProTyrLysPheProSerSerProLeuArgIleProGlyGlyAsnIleTyrIleSerProLeuLysSerProTyrLysIleSerGluGlyLeuProThrProThrLysMetThrProArgSerArgIleLeuValSerIleGlyGluSerPheGlyThrSerGluLysPheGlnLysIleAsnGlnMetValCysAsnSerAspArgValLeuLysArgSerAlaGluGlySerAsnProProLysProLeuLysLysLeuArgPheAspIleGluGlySerAspGluAlaAspGlySerLysHisLeuProGlyGluSerLysPheGlnGlnLysLeuAlaGluMetThrSerThrArgThrArgMetGlnLysGlnLysMetAsnAspSerMetAspThrSerAsnLysGluGluLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710824",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267163.6:c.1633G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000321.3:c.1633G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267163.4:p.Glu545Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000312.2:p.Glu545Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}