{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA388165432",
  "communityStandardTitle": [
    "NM_000321.3(RB1):c.1700C>G (p.Ser567Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2858693[alleleid]",
        "alleleId": 2858693,
        "preferredName": "NM_000321.3(RB1):c.1700C>G (p.Ser567Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2698553",
        "RCV": [
          "RCV003515319"
        ],
        "variationId": 2698553
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.49027133C>G?assembly=hg19",
        "id": "chr13:g.49027133C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.48452997C>G?assembly=hg38",
        "id": "chr13:g.48452997C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137853292",
        "rs": 137853292
      }
    ]
  },
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    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 48452997,
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          "start": 48452996
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      ],
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        "CM000675.2:g.48452997C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
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          "start": 49027132
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      ],
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "13",
      "coordinates": [
        {
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        }
      ],
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        "NC_000013.9:g.47925134C>G"
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 154251,
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          "start": 154250
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      ],
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        "NG_009009.1:g.154251C>G",
        "LRG_517:g.154251C>G"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001377"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742979",
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          }
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      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 194,
          "endIntronDirection": "+",
          "endIntronOffset": 71554,
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          "start": 194,
          "startIntronDirection": "+",
          "startIntronOffset": 71553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
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        "ENST00000643064.1:c.194+71554C>G"
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      "referenceSequence": "http://reg.genome.network/refseq/RS767072"
    },
    {
      "coordinates": [
        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1838,
          "referenceAllele": "C",
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        }
      ],
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247284"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 399,
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          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000480491.1:n.399C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825122293",
      "coordinates": [
        {
          "allele": "G",
          "end": 1866,
          "referenceAllele": "C",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
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      "hgvs": [
        "NM_000321.2:c.1700C>G",
        "LRG_517t1:c.1700C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000312.2:p.Ser567Ter",
        "hgvsWellDefined": "NP_000312.2:p.Ser567_Lys928delinsProLeuPheAspLeuIleLysGlnSerLysAspArgGluGlyProThrAspHisLeuGluSerAlaCysProLeuAsnLeuProLeuGlnAsnAsnHisThrAlaAlaAspMetTyrLeuSerProValArgSerProLysLysLysGlySerThrThrArgValAsnSerThrAlaAsnAlaGluThrGlnAlaThrSerAlaPheGlnThrGlnLysProLeuLysSerThrSerLeuSerLeuPheTyrLysLysValTyrArgLeuAlaTyrLeuArgLeuAsnThrLeuCysGluArgLeuLeuSerGluHisProGluLeuGluHisIleIleTrpThrLeuPheGlnHisThrLeuGlnAsnGluTyrGluLeuMetArgAspArgHisLeuAspGlnIleMetMetCysSerMetTyrGlyIleCysLysValLysAsnIleAspLeuLysPheLysIleIleValThrAlaTyrLysAspLeuProHisAlaValGlnGluThrPheLysArgValLeuIleLysGluGluGluTyrAspSerIleIleValPheTyrAsnSerValPheMetGlnArgLeuLysThrAsnIleLeuGlnTyrAlaSerThrArgProProThrLeuSerProIleProHisIleProArgSerProTyrLysPheProSerSerProLeuArgIleProGlyGlyAsnIleTyrIleSerProLeuLysSerProTyrLysIleSerGluGlyLeuProThrProThrLysMetThrProArgSerArgIleLeuValSerIleGlyGluSerPheGlyThrSerGluLysPheGlnLysIleAsnGlnMetValCysAsnSerAspArgValLeuLysArgSerAlaGluGlySerAsnProProLysProLeuLysLysLeuArgPheAspIleGluGlySerAspGluAlaAspGlySerLysHisLeuProGlyGluSerLysPheGlnGlnLysLeuAlaGluMetThrSerThrArgThrArgMetGlnLysGlnLysMetAsnAspSerMetAspThrSerAsnLysGluGluLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006385"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1454,
          "referenceAllele": "C",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "XP_011533473.1:p.Ser480Ter",
        "hgvsWellDefined": "XP_011533473.1:p.Ser480_Lys841delinsProLeuPheAspLeuIleLysGlnSerLysAspArgGluGlyProThrAspHisLeuGluSerAlaCysProLeuAsnLeuProLeuGlnAsnAsnHisThrAlaAlaAspMetTyrLeuSerProValArgSerProLysLysLysGlySerThrThrArgValAsnSerThrAlaAsnAlaGluThrGlnAlaThrSerAlaPheGlnThrGlnLysProLeuLysSerThrSerLeuSerLeuPheTyrLysLysValTyrArgLeuAlaTyrLeuArgLeuAsnThrLeuCysGluArgLeuLeuSerGluHisProGluLeuGluHisIleIleTrpThrLeuPheGlnHisThrLeuGlnAsnGluTyrGluLeuMetArgAspArgHisLeuAspGlnIleMetMetCysSerMetTyrGlyIleCysLysValLysAsnIleAspLeuLysPheLysIleIleValThrAlaTyrLysAspLeuProHisAlaValGlnGluThrPheLysArgValLeuIleLysGluGluGluTyrAspSerIleIleValPheTyrAsnSerValPheMetGlnArgLeuLysThrAsnIleLeuGlnTyrAlaSerThrArgProProThrLeuSerProIleProHisIleProArgSerProTyrLysPheProSerSerProLeuArgIleProGlyGlyAsnIleTyrIleSerProLeuLysSerProTyrLysIleSerGluGlyLeuProThrProThrLysMetThrProArgSerArgIleLeuValSerIleGlyGluSerPheGlyThrSerGluLysPheGlnLysIleAsnGlnMetValCysAsnSerAspArgValLeuLysArgSerAlaGluGlySerAsnProProLysProLeuLysLysLeuArgPheAspIleGluGlySerAspGluAlaAspGlySerLysHisLeuProGlyGluSerLysPheGlnGlnLysLeuAlaGluMetThrSerThrArgThrArgMetGlnLysGlnLysMetAsnAspSerMetAspThrSerAsnLysGluGluLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102180"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1455,
          "referenceAllele": "C",
          "start": 1454
        }
      ],
      "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.Ser480_Lys841delinsProLeuPheAspLeuIleLysGlnSerLysAspArgGluGlyProThrAspHisLeuGluSerAlaCysProLeuAsnLeuProLeuGlnAsnAsnHisThrAlaAlaAspMetTyrLeuSerProValArgSerProLysLysLysGlySerThrThrArgValAsnSerThrAlaAsnAlaGluThrGlnAlaThrSerAlaPheGlnThrGlnLysProLeuLysSerThrSerLeuSerLeuPheTyrLysLysValTyrArgLeuAlaTyrLeuArgLeuAsnThrLeuCysGluArgLeuLeuSerGluHisProGluLeuGluHisIleIleTrpThrLeuPheGlnHisThrLeuGlnAsnGluTyrGluLeuMetArgAspArgHisLeuAspGlnIleMetMetCysSerMetTyrGlyIleCysLysValLysAsnIleAspLeuLysPheLysIleIleValThrAlaTyrLysAspLeuProHisAlaValGlnGluThrPheLysArgValLeuIleLysGluGluGluTyrAspSerIleIleValPheTyrAsnSerValPheMetGlnArgLeuLysThrAsnIleLeuGlnTyrAlaSerThrArgProProThrLeuSerProIleProHisIleProArgSerProTyrLysPheProSerSerProLeuArgIleProGlyGlyAsnIleTyrIleSerProLeuLysSerProTyrLysIleSerGluGlyLeuProThrProThrLysMetThrProArgSerArgIleLeuValSerIleGlyGluSerPheGlyThrSerGluLysPheGlnLysIleAsnGlnMetValCysAsnSerAspArgValLeuLysArgSerAlaGluGlySerAsnProProLysProLeuLysLysLeuArgPheAspIleGluGlySerAspGluAlaAspGlySerLysHisLeuProGlyGluSerLysPheGlnGlnLysLeuAlaGluMetThrSerThrArgThrArgMetGlnLysGlnLysMetAsnAspSerMetAspThrSerAsnLysGluGluLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551929"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825122293",
      "coordinates": [
        {
          "allele": "G",
          "end": 1862,
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          "start": 1861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
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      "hgvs": [
        "NM_000321.3:c.1700C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000312.2:p.Ser567Ter",
        "hgvsWellDefined": "NP_000312.2:p.Ser567_Lys928delinsProLeuPheAspLeuIleLysGlnSerLysAspArgGluGlyProThrAspHisLeuGluSerAlaCysProLeuAsnLeuProLeuGlnAsnAsnHisThrAlaAlaAspMetTyrLeuSerProValArgSerProLysLysLysGlySerThrThrArgValAsnSerThrAlaAsnAlaGluThrGlnAlaThrSerAlaPheGlnThrGlnLysProLeuLysSerThrSerLeuSerLeuPheTyrLysLysValTyrArgLeuAlaTyrLeuArgLeuAsnThrLeuCysGluArgLeuLeuSerGluHisProGluLeuGluHisIleIleTrpThrLeuPheGlnHisThrLeuGlnAsnGluTyrGluLeuMetArgAspArgHisLeuAspGlnIleMetMetCysSerMetTyrGlyIleCysLysValLysAsnIleAspLeuLysPheLysIleIleValThrAlaTyrLysAspLeuProHisAlaValGlnGluThrPheLysArgValLeuIleLysGluGluGluTyrAspSerIleIleValPheTyrAsnSerValPheMetGlnArgLeuLysThrAsnIleLeuGlnTyrAlaSerThrArgProProThrLeuSerProIleProHisIleProArgSerProTyrLysPheProSerSerProLeuArgIleProGlyGlyAsnIleTyrIleSerProLeuLysSerProTyrLysIleSerGluGlyLeuProThrProThrLysMetThrProArgSerArgIleLeuValSerIleGlyGluSerPheGlyThrSerGluLysPheGlnLysIleAsnGlnMetValCysAsnSerAspArgValLeuLysArgSerAlaGluGlySerAsnProProLysProLeuLysLysLeuArgPheAspIleGluGlySerAspGluAlaAspGlySerLysHisLeuProGlyGluSerLysPheGlnGlnLysLeuAlaGluMetThrSerThrArgThrArgMetGlnLysGlnLysMetAsnAspSerMetAspThrSerAsnLysGluGluLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710824",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267163.6:c.1700C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000321.3:c.1700C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267163.4:p.Ser567Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000312.2:p.Ser567Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}