{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA026454",
  "communityStandardTitle": [
    "NM_000321.3(RB1):c.409G>T (p.Glu137Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=890",
        "active": true,
        "id": "COSM890"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1587107",
        "active": true,
        "id": "COSM1587107"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=132320[alleleid]",
        "alleleId": 132320,
        "preferredName": "NM_000321.3(RB1):c.409G>T (p.Glu137Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/126810",
        "RCV": [
          "RCV000114702",
          "RCV000427414"
        ],
        "variationId": 126810
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.48919244G>T?assembly=hg19",
        "id": "chr13:g.48919244G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.48345108G>T?assembly=hg38",
        "id": "chr13:g.48345108G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121913296",
        "rs": 121913296
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 48345108,
          "referenceAllele": "G",
          "start": 48345107
        }
      ],
      "hgvs": [
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        "CM000675.2:g.48345108G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
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          "end": 48919244,
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          "start": 48919243
        }
      ],
      "hgvs": [
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        "CM000675.1:g.48919244G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 47817245,
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        }
      ],
      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 46362,
          "referenceAllele": "G",
          "start": 46361
        }
      ],
      "hgvs": [
        "NG_009009.1:g.46362G>T",
        "LRG_517:g.46362G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001377"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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      "geneNCBI_id": 5925,
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742979",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267163.6:c.409G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000321.3:c.409G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267163.4:p.Glu137Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000312.2:p.Glu137Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 575,
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          "start": 574
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      ],
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      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000650461.1:c.409G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497193.1:p.Glu137Ter",
        "hgvsWellDefined": "ENSP00000497193.1:p.Glu137_Glu923delinsIleAspThrSerThrLysValAspAsnAlaMetSerArgLeuLeuLysLysTyrAspValLeuPheAlaLeuPheSerLysLeuGluArgThrCysGluLeuIleTyrLeuThrGlnProSerSerSerIleSerThrGluIleAsnSerAlaLeuValLeuLysValSerTrpIleThrPheLeuLeuAlaLysGlyGluValLeuGlnMetGluAspAspLeuValIleSerPheGlnLeuMetLeuCysValLeuAspTyrPheIleLysLeuSerProProMetLeuLeuLysGluProTyrLysThrAlaValIleProIleAsnGlySerProArgThrProArgArgGlyGlnAsnArgSerAlaArgIleAlaLysGlnLeuGluAsnAspThrArgIleIleGluValLeuCysLysGluHisGluCysAsnIleAspGluValLysAsnValTyrPheLysAsnPheIleProPheMetAsnSerLeuGlyLeuValThrSerAsnGlyLeuProGluValGluAsnLeuSerLysArgTyrGluGluIleTyrLeuLysAsnLysAspLeuAspAlaArgLeuPheLeuAspHisAspLysThrLeuGlnThrAspSerIleAspSerPheGluThrGlnArgThrProArgLysSerAsnLeuAspGluGluValAsnValIleProProHisThrProValArgThrValMetAsnThrIleGlnGlnLeuMetMetIleLeuAsnSerAlaSerAspGlnProSerGluAsnLeuIleSerTyrPheAsnAsnCysThrValAsnProLysGluSerIleLeuLysArgValLysAspIleGlyTyrIlePheLysGluLysPheAlaLysAlaValGlyGlnGlyCysValGluIleGlySerGlnArgTyrLysLeuGlyValArgLeuTyrTyrArgValMetGluSerMetLeuLysSerGluGluGluArgLeuSerIleGlnAsnPheSerLysLeuLeuAsnAspAsnIlePheHisMetSerLeuLeuAlaCysAlaLeuGluValValMetAlaThrTyrSerArgSerThrSerGlnAsnLeuAspSerGlyThrAspLeuSerPheProTrpIleLeuAsnValLeuAsnLeuLysAlaPheAspPheTyrLysValIleGluSerPheIleLysAlaGluGlyAsnLeuThrArgGluMetIleLysHisLeuGluArgCysGluHisArgIleMetGluSerLeuAlaTrpLeuSerAspSerProLeuPheAspLeuIleLysGlnSerLysAspArgGluGlyProThrAspHisLeuGluSerAlaCysProLeuAsnLeuProLeuGlnAsnAsnHisThrAlaAlaAspMetTyrLeuSerProValArgSerProLysLysLysGlySerThrThrArgValAsnSerThrAlaAsnAlaGluThrGlnAlaThrSerAlaPheGlnThrGlnLysProLeuLysSerThrSerLeuSerLeuPheTyrLysLysValTyrArgLeuAlaTyrLeuArgLeuAsnThrLeuCysGluArgLeuLeuSerGluHisProGluLeuGluHisIleIleTrpThrLeuPheGlnHisThrLeuGlnAsnGluTyrGluLeuMetArgAspArgHisLeuAspGlnIleMetMetCysSerMetTyrGlyIleCysLysValLysAsnIleAspLeuLysPheLysIleIleValThrAlaTyrLysAspLeuProHisAlaValGlnGluThrPheLysArgValLeuIleLysGluGluGluTyrAspSerIleIleValPheTyrAsnSerValPheMetGlnArgLeuLysThrAsnIleLeuGlnTyrAlaSerThrArgProProThrLeuSerProIleProHisIleProArgSerProTyrLysPheProSerSerProLeuArgIleProGlyGlyAsnIleTyrIleSerProLeuLysSerProTyrLysIleSerGluGlyLeuProThrProThrLysMetThrProArgSerArgIleLeuValSerIleGlyGluSerPheGlyThrSerGluLysPheGlnLysIleAsnGlnMetValCysAsnSerAspArgValLeuLysArgSerAlaGluGlySerAsnProProLysProLeuLysLysLeuArgPheAspIleGluGlySerAspGluAlaAspGlySerLysHisLeuProGlyGluSerLysPheGlnGlnLysLeuAlaGluMetIleLeuHisProPheSerSerPheTyrSerAsnThrAsnAlaLysAlaGluAsnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 547,
          "referenceAllele": "G",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000267163.4:c.409G>T"
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      "proteinEffect": {
        "hgvs": "ENSP00000267163.4:p.Glu137Ter",
        "hgvsWellDefined": "ENSP00000267163.4:p.Glu137_Lys928delinsIleAspThrSerThrLysValAspAsnAlaMetSerArgLeuLeuLysLysTyrAspValLeuPheAlaLeuPheSerLysLeuGluArgThrCysGluLeuIleTyrLeuThrGlnProSerSerSerIleSerThrGluIleAsnSerAlaLeuValLeuLysValSerTrpIleThrPheLeuLeuAlaLysGlyGluValLeuGlnMetGluAspAspLeuValIleSerPheGlnLeuMetLeuCysValLeuAspTyrPheIleLysLeuSerProProMetLeuLeuLysGluProTyrLysThrAlaValIleProIleAsnGlySerProArgThrProArgArgGlyGlnAsnArgSerAlaArgIleAlaLysGlnLeuGluAsnAspThrArgIleIleGluValLeuCysLysGluHisGluCysAsnIleAspGluValLysAsnValTyrPheLysAsnPheIleProPheMetAsnSerLeuGlyLeuValThrSerAsnGlyLeuProGluValGluAsnLeuSerLysArgTyrGluGluIleTyrLeuLysAsnLysAspLeuAspAlaArgLeuPheLeuAspHisAspLysThrLeuGlnThrAspSerIleAspSerPheGluThrGlnArgThrProArgLysSerAsnLeuAspGluGluValAsnValIleProProHisThrProValArgThrValMetAsnThrIleGlnGlnLeuMetMetIleLeuAsnSerAlaSerAspGlnProSerGluAsnLeuIleSerTyrPheAsnAsnCysThrValAsnProLysGluSerIleLeuLysArgValLysAspIleGlyTyrIlePheLysGluLysPheAlaLysAlaValGlyGlnGlyCysValGluIleGlySerGlnArgTyrLysLeuGlyValArgLeuTyrTyrArgValMetGluSerMetLeuLysSerGluGluGluArgLeuSerIleGlnAsnPheSerLysLeuLeuAsnAspAsnIlePheHisMetSerLeuLeuAlaCysAlaLeuGluValValMetAlaThrTyrSerArgSerThrSerGlnAsnLeuAspSerGlyThrAspLeuSerPheProTrpIleLeuAsnValLeuAsnLeuLysAlaPheAspPheTyrLysValIleGluSerPheIleLysAlaGluGlyAsnLeuThrArgGluMetIleLysHisLeuGluArgCysGluHisArgIleMetGluSerLeuAlaTrpLeuSerAspSerProLeuPheAspLeuIleLysGlnSerLysAspArgGluGlyProThrAspHisLeuGluSerAlaCysProLeuAsnLeuProLeuGlnAsnAsnHisThrAlaAlaAspMetTyrLeuSerProValArgSerProLysLysLysGlySerThrThrArgValAsnSerThrAlaAsnAlaGluThrGlnAlaThrSerAlaPheGlnThrGlnLysProLeuLysSerThrSerLeuSerLeuPheTyrLysLysValTyrArgLeuAlaTyrLeuArgLeuAsnThrLeuCysGluArgLeuLeuSerGluHisProGluLeuGluHisIleIleTrpThrLeuPheGlnHisThrLeuGlnAsnGluTyrGluLeuMetArgAspArgHisLeuAspGlnIleMetMetCysSerMetTyrGlyIleCysLysValLysAsnIleAspLeuLysPheLysIleIleValThrAlaTyrLysAspLeuProHisAlaValGlnGluThrPheLysArgValLeuIleLysGluGluGluTyrAspSerIleIleValPheTyrAsnSerValPheMetGlnArgLeuLysThrAsnIleLeuGlnTyrAlaSerThrArgProProThrLeuSerProIleProHisIleProArgSerProTyrLysPheProSerSerProLeuArgIleProGlyGlyAsnIleTyrIleSerProLeuLysSerProTyrLysIleSerGluGlyLeuProThrProThrLysMetThrProArgSerArgIleLeuValSerIleGlyGluSerPheGlyThrSerGluLysPheGlnLysIleAsnGlnMetValCysAsnSerAspArgValLeuLysArgSerAlaGluGlySerAsnProProLysProLeuLysLysLeuArgPheAspIleGluGlySerAspGluAlaAspGlySerLysHisLeuProGlyGluSerLysPheGlnGlnLysLeuAlaGluMetThrSerThrArgThrArgMetGlnLysGlnLysMetAsnAspSerMetAspThrSerAsnLysGluGluLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 275,
          "endIntronDirection": "-",
          "endIntronOffset": 14908,
          "referenceAllele": "G",
          "start": 275,
          "startIntronDirection": "-",
          "startIntronOffset": 14909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000467505.5:c.138-14909G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434702.1:n.138-14909G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS310623"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "G",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000525036.1:n.571G>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS351113"
    },
    {
      "@id": "http://reg.genome.network/allele/PA269699",
      "coordinates": [
        {
          "allele": "T",
          "end": 575,
          "referenceAllele": "G",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "NM_000321.2:c.409G>T",
        "LRG_517t1:c.409G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000312.2:p.Glu137Ter",
        "hgvsWellDefined": "NP_000312.2:p.Glu137_Lys928delinsIleAspThrSerThrLysValAspAsnAlaMetSerArgLeuLeuLysLysTyrAspValLeuPheAlaLeuPheSerLysLeuGluArgThrCysGluLeuIleTyrLeuThrGlnProSerSerSerIleSerThrGluIleAsnSerAlaLeuValLeuLysValSerTrpIleThrPheLeuLeuAlaLysGlyGluValLeuGlnMetGluAspAspLeuValIleSerPheGlnLeuMetLeuCysValLeuAspTyrPheIleLysLeuSerProProMetLeuLeuLysGluProTyrLysThrAlaValIleProIleAsnGlySerProArgThrProArgArgGlyGlnAsnArgSerAlaArgIleAlaLysGlnLeuGluAsnAspThrArgIleIleGluValLeuCysLysGluHisGluCysAsnIleAspGluValLysAsnValTyrPheLysAsnPheIleProPheMetAsnSerLeuGlyLeuValThrSerAsnGlyLeuProGluValGluAsnLeuSerLysArgTyrGluGluIleTyrLeuLysAsnLysAspLeuAspAlaArgLeuPheLeuAspHisAspLysThrLeuGlnThrAspSerIleAspSerPheGluThrGlnArgThrProArgLysSerAsnLeuAspGluGluValAsnValIleProProHisThrProValArgThrValMetAsnThrIleGlnGlnLeuMetMetIleLeuAsnSerAlaSerAspGlnProSerGluAsnLeuIleSerTyrPheAsnAsnCysThrValAsnProLysGluSerIleLeuLysArgValLysAspIleGlyTyrIlePheLysGluLysPheAlaLysAlaValGlyGlnGlyCysValGluIleGlySerGlnArgTyrLysLeuGlyValArgLeuTyrTyrArgValMetGluSerMetLeuLysSerGluGluGluArgLeuSerIleGlnAsnPheSerLysLeuLeuAsnAspAsnIlePheHisMetSerLeuLeuAlaCysAlaLeuGluValValMetAlaThrTyrSerArgSerThrSerGlnAsnLeuAspSerGlyThrAspLeuSerPheProTrpIleLeuAsnValLeuAsnLeuLysAlaPheAspPheTyrLysValIleGluSerPheIleLysAlaGluGlyAsnLeuThrArgGluMetIleLysHisLeuGluArgCysGluHisArgIleMetGluSerLeuAlaTrpLeuSerAspSerProLeuPheAspLeuIleLysGlnSerLysAspArgGluGlyProThrAspHisLeuGluSerAlaCysProLeuAsnLeuProLeuGlnAsnAsnHisThrAlaAlaAspMetTyrLeuSerProValArgSerProLysLysLysGlySerThrThrArgValAsnSerThrAlaAsnAlaGluThrGlnAlaThrSerAlaPheGlnThrGlnLysProLeuLysSerThrSerLeuSerLeuPheTyrLysLysValTyrArgLeuAlaTyrLeuArgLeuAsnThrLeuCysGluArgLeuLeuSerGluHisProGluLeuGluHisIleIleTrpThrLeuPheGlnHisThrLeuGlnAsnGluTyrGluLeuMetArgAspArgHisLeuAspGlnIleMetMetCysSerMetTyrGlyIleCysLysValLysAsnIleAspLeuLysPheLysIleIleValThrAlaTyrLysAspLeuProHisAlaValGlnGluThrPheLysArgValLeuIleLysGluGluGluTyrAspSerIleIleValPheTyrAsnSerValPheMetGlnArgLeuLysThrAsnIleLeuGlnTyrAlaSerThrArgProProThrLeuSerProIleProHisIleProArgSerProTyrLysPheProSerSerProLeuArgIleProGlyGlyAsnIleTyrIleSerProLeuLysSerProTyrLysIleSerGluGlyLeuProThrProThrLysMetThrProArgSerArgIleLeuValSerIleGlyGluSerPheGlyThrSerGluLysPheGlnLysIleAsnGlnMetValCysAsnSerAspArgValLeuLysArgSerAlaGluGlySerAsnProProLysProLeuLysLysLeuArgPheAspIleGluGlySerAspGluAlaAspGlySerLysHisLeuProGlyGluSerLysPheGlnGlnLysLeuAlaGluMetThrSerThrArgThrArgMetGlnLysGlnLysMetAsnAspSerMetAspThrSerAsnLysGluGluLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 163,
          "referenceAllele": "G",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "XM_011535171.1:c.148G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533473.1:p.Glu50Ter",
        "hgvsWellDefined": "XP_011533473.1:p.Glu50_Lys841delinsIleAspThrSerThrLysValAspAsnAlaMetSerArgLeuLeuLysLysTyrAspValLeuPheAlaLeuPheSerLysLeuGluArgThrCysGluLeuIleTyrLeuThrGlnProSerSerSerIleSerThrGluIleAsnSerAlaLeuValLeuLysValSerTrpIleThrPheLeuLeuAlaLysGlyGluValLeuGlnMetGluAspAspLeuValIleSerPheGlnLeuMetLeuCysValLeuAspTyrPheIleLysLeuSerProProMetLeuLeuLysGluProTyrLysThrAlaValIleProIleAsnGlySerProArgThrProArgArgGlyGlnAsnArgSerAlaArgIleAlaLysGlnLeuGluAsnAspThrArgIleIleGluValLeuCysLysGluHisGluCysAsnIleAspGluValLysAsnValTyrPheLysAsnPheIleProPheMetAsnSerLeuGlyLeuValThrSerAsnGlyLeuProGluValGluAsnLeuSerLysArgTyrGluGluIleTyrLeuLysAsnLysAspLeuAspAlaArgLeuPheLeuAspHisAspLysThrLeuGlnThrAspSerIleAspSerPheGluThrGlnArgThrProArgLysSerAsnLeuAspGluGluValAsnValIleProProHisThrProValArgThrValMetAsnThrIleGlnGlnLeuMetMetIleLeuAsnSerAlaSerAspGlnProSerGluAsnLeuIleSerTyrPheAsnAsnCysThrValAsnProLysGluSerIleLeuLysArgValLysAspIleGlyTyrIlePheLysGluLysPheAlaLysAlaValGlyGlnGlyCysValGluIleGlySerGlnArgTyrLysLeuGlyValArgLeuTyrTyrArgValMetGluSerMetLeuLysSerGluGluGluArgLeuSerIleGlnAsnPheSerLysLeuLeuAsnAspAsnIlePheHisMetSerLeuLeuAlaCysAlaLeuGluValValMetAlaThrTyrSerArgSerThrSerGlnAsnLeuAspSerGlyThrAspLeuSerPheProTrpIleLeuAsnValLeuAsnLeuLysAlaPheAspPheTyrLysValIleGluSerPheIleLysAlaGluGlyAsnLeuThrArgGluMetIleLysHisLeuGluArgCysGluHisArgIleMetGluSerLeuAlaTrpLeuSerAspSerProLeuPheAspLeuIleLysGlnSerLysAspArgGluGlyProThrAspHisLeuGluSerAlaCysProLeuAsnLeuProLeuGlnAsnAsnHisThrAlaAlaAspMetTyrLeuSerProValArgSerProLysLysLysGlySerThrThrArgValAsnSerThrAlaAsnAlaGluThrGlnAlaThrSerAlaPheGlnThrGlnLysProLeuLysSerThrSerLeuSerLeuPheTyrLysLysValTyrArgLeuAlaTyrLeuArgLeuAsnThrLeuCysGluArgLeuLeuSerGluHisProGluLeuGluHisIleIleTrpThrLeuPheGlnHisThrLeuGlnAsnGluTyrGluLeuMetArgAspArgHisLeuAspGlnIleMetMetCysSerMetTyrGlyIleCysLysValLysAsnIleAspLeuLysPheLysIleIleValThrAlaTyrLysAspLeuProHisAlaValGlnGluThrPheLysArgValLeuIleLysGluGluGluTyrAspSerIleIleValPheTyrAsnSerValPheMetGlnArgLeuLysThrAsnIleLeuGlnTyrAlaSerThrArgProProThrLeuSerProIleProHisIleProArgSerProTyrLysPheProSerSerProLeuArgIleProGlyGlyAsnIleTyrIleSerProLeuLysSerProTyrLysIleSerGluGlyLeuProThrProThrLysMetThrProArgSerArgIleLeuValSerIleGlyGluSerPheGlyThrSerGluLysPheGlnLysIleAsnGlnMetValCysAsnSerAspArgValLeuLysArgSerAlaGluGlySerAsnProProLysProLeuLysLysLeuArgPheAspIleGluGlySerAspGluAlaAspGlySerLysHisLeuProGlyGluSerLysPheGlnGlnLysLeuAlaGluMetThrSerThrArgThrArgMetGlnLysGlnLysMetAsnAspSerMetAspThrSerAsnLysGluGluLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102180"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 164,
          "referenceAllele": "G",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "XM_011535171.2:c.148G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533473.1:p.Glu50Ter",
        "hgvsWellDefined": "XP_011533473.1:p.Glu50_Lys841delinsIleAspThrSerThrLysValAspAsnAlaMetSerArgLeuLeuLysLysTyrAspValLeuPheAlaLeuPheSerLysLeuGluArgThrCysGluLeuIleTyrLeuThrGlnProSerSerSerIleSerThrGluIleAsnSerAlaLeuValLeuLysValSerTrpIleThrPheLeuLeuAlaLysGlyGluValLeuGlnMetGluAspAspLeuValIleSerPheGlnLeuMetLeuCysValLeuAspTyrPheIleLysLeuSerProProMetLeuLeuLysGluProTyrLysThrAlaValIleProIleAsnGlySerProArgThrProArgArgGlyGlnAsnArgSerAlaArgIleAlaLysGlnLeuGluAsnAspThrArgIleIleGluValLeuCysLysGluHisGluCysAsnIleAspGluValLysAsnValTyrPheLysAsnPheIleProPheMetAsnSerLeuGlyLeuValThrSerAsnGlyLeuProGluValGluAsnLeuSerLysArgTyrGluGluIleTyrLeuLysAsnLysAspLeuAspAlaArgLeuPheLeuAspHisAspLysThrLeuGlnThrAspSerIleAspSerPheGluThrGlnArgThrProArgLysSerAsnLeuAspGluGluValAsnValIleProProHisThrProValArgThrValMetAsnThrIleGlnGlnLeuMetMetIleLeuAsnSerAlaSerAspGlnProSerGluAsnLeuIleSerTyrPheAsnAsnCysThrValAsnProLysGluSerIleLeuLysArgValLysAspIleGlyTyrIlePheLysGluLysPheAlaLysAlaValGlyGlnGlyCysValGluIleGlySerGlnArgTyrLysLeuGlyValArgLeuTyrTyrArgValMetGluSerMetLeuLysSerGluGluGluArgLeuSerIleGlnAsnPheSerLysLeuLeuAsnAspAsnIlePheHisMetSerLeuLeuAlaCysAlaLeuGluValValMetAlaThrTyrSerArgSerThrSerGlnAsnLeuAspSerGlyThrAspLeuSerPheProTrpIleLeuAsnValLeuAsnLeuLysAlaPheAspPheTyrLysValIleGluSerPheIleLysAlaGluGlyAsnLeuThrArgGluMetIleLysHisLeuGluArgCysGluHisArgIleMetGluSerLeuAlaTrpLeuSerAspSerProLeuPheAspLeuIleLysGlnSerLysAspArgGluGlyProThrAspHisLeuGluSerAlaCysProLeuAsnLeuProLeuGlnAsnAsnHisThrAlaAlaAspMetTyrLeuSerProValArgSerProLysLysLysGlySerThrThrArgValAsnSerThrAlaAsnAlaGluThrGlnAlaThrSerAlaPheGlnThrGlnLysProLeuLysSerThrSerLeuSerLeuPheTyrLysLysValTyrArgLeuAlaTyrLeuArgLeuAsnThrLeuCysGluArgLeuLeuSerGluHisProGluLeuGluHisIleIleTrpThrLeuPheGlnHisThrLeuGlnAsnGluTyrGluLeuMetArgAspArgHisLeuAspGlnIleMetMetCysSerMetTyrGlyIleCysLysValLysAsnIleAspLeuLysPheLysIleIleValThrAlaTyrLysAspLeuProHisAlaValGlnGluThrPheLysArgValLeuIleLysGluGluGluTyrAspSerIleIleValPheTyrAsnSerValPheMetGlnArgLeuLysThrAsnIleLeuGlnTyrAlaSerThrArgProProThrLeuSerProIleProHisIleProArgSerProTyrLysPheProSerSerProLeuArgIleProGlyGlyAsnIleTyrIleSerProLeuLysSerProTyrLysIleSerGluGlyLeuProThrProThrLysMetThrProArgSerArgIleLeuValSerIleGlyGluSerPheGlyThrSerGluLysPheGlnLysIleAsnGlnMetValCysAsnSerAspArgValLeuLysArgSerAlaGluGlySerAsnProProLysProLeuLysLysLeuArgPheAspIleGluGlySerAspGluAlaAspGlySerLysHisLeuProGlyGluSerLysPheGlnGlnLysLeuAlaGluMetThrSerThrArgThrArgMetGlnLysGlnLysMetAsnAspSerMetAspThrSerAsnLysGluGluLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551929"
    },
    {
      "@id": "http://reg.genome.network/allele/PA269699",
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "G",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "NM_000321.3:c.409G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000312.2:p.Glu137Ter",
        "hgvsWellDefined": "NP_000312.2:p.Glu137_Lys928delinsIleAspThrSerThrLysValAspAsnAlaMetSerArgLeuLeuLysLysTyrAspValLeuPheAlaLeuPheSerLysLeuGluArgThrCysGluLeuIleTyrLeuThrGlnProSerSerSerIleSerThrGluIleAsnSerAlaLeuValLeuLysValSerTrpIleThrPheLeuLeuAlaLysGlyGluValLeuGlnMetGluAspAspLeuValIleSerPheGlnLeuMetLeuCysValLeuAspTyrPheIleLysLeuSerProProMetLeuLeuLysGluProTyrLysThrAlaValIleProIleAsnGlySerProArgThrProArgArgGlyGlnAsnArgSerAlaArgIleAlaLysGlnLeuGluAsnAspThrArgIleIleGluValLeuCysLysGluHisGluCysAsnIleAspGluValLysAsnValTyrPheLysAsnPheIleProPheMetAsnSerLeuGlyLeuValThrSerAsnGlyLeuProGluValGluAsnLeuSerLysArgTyrGluGluIleTyrLeuLysAsnLysAspLeuAspAlaArgLeuPheLeuAspHisAspLysThrLeuGlnThrAspSerIleAspSerPheGluThrGlnArgThrProArgLysSerAsnLeuAspGluGluValAsnValIleProProHisThrProValArgThrValMetAsnThrIleGlnGlnLeuMetMetIleLeuAsnSerAlaSerAspGlnProSerGluAsnLeuIleSerTyrPheAsnAsnCysThrValAsnProLysGluSerIleLeuLysArgValLysAspIleGlyTyrIlePheLysGluLysPheAlaLysAlaValGlyGlnGlyCysValGluIleGlySerGlnArgTyrLysLeuGlyValArgLeuTyrTyrArgValMetGluSerMetLeuLysSerGluGluGluArgLeuSerIleGlnAsnPheSerLysLeuLeuAsnAspAsnIlePheHisMetSerLeuLeuAlaCysAlaLeuGluValValMetAlaThrTyrSerArgSerThrSerGlnAsnLeuAspSerGlyThrAspLeuSerPheProTrpIleLeuAsnValLeuAsnLeuLysAlaPheAspPheTyrLysValIleGluSerPheIleLysAlaGluGlyAsnLeuThrArgGluMetIleLysHisLeuGluArgCysGluHisArgIleMetGluSerLeuAlaTrpLeuSerAspSerProLeuPheAspLeuIleLysGlnSerLysAspArgGluGlyProThrAspHisLeuGluSerAlaCysProLeuAsnLeuProLeuGlnAsnAsnHisThrAlaAlaAspMetTyrLeuSerProValArgSerProLysLysLysGlySerThrThrArgValAsnSerThrAlaAsnAlaGluThrGlnAlaThrSerAlaPheGlnThrGlnLysProLeuLysSerThrSerLeuSerLeuPheTyrLysLysValTyrArgLeuAlaTyrLeuArgLeuAsnThrLeuCysGluArgLeuLeuSerGluHisProGluLeuGluHisIleIleTrpThrLeuPheGlnHisThrLeuGlnAsnGluTyrGluLeuMetArgAspArgHisLeuAspGlnIleMetMetCysSerMetTyrGlyIleCysLysValLysAsnIleAspLeuLysPheLysIleIleValThrAlaTyrLysAspLeuProHisAlaValGlnGluThrPheLysArgValLeuIleLysGluGluGluTyrAspSerIleIleValPheTyrAsnSerValPheMetGlnArgLeuLysThrAsnIleLeuGlnTyrAlaSerThrArgProProThrLeuSerProIleProHisIleProArgSerProTyrLysPheProSerSerProLeuArgIleProGlyGlyAsnIleTyrIleSerProLeuLysSerProTyrLysIleSerGluGlyLeuProThrProThrLysMetThrProArgSerArgIleLeuValSerIleGlyGluSerPheGlyThrSerGluLysPheGlnLysIleAsnGlnMetValCysAsnSerAspArgValLeuLysArgSerAlaGluGlySerAsnProProLysProLeuLysLysLeuArgPheAspIleGluGlySerAspGluAlaAspGlySerLysHisLeuProGlyGluSerLysPheGlnGlnLysLeuAlaGluMetThrSerThrArgThrArgMetGlnLysGlnLysMetAsnAspSerMetAspThrSerAsnLysGluGluLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710824",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267163.6:c.409G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000321.3:c.409G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267163.4:p.Glu137Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000312.2:p.Glu137Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}