{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA388159319",
  "communityStandardTitle": [
    "NM_000321.3(RB1):c.751C>T (p.Arg251Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=878",
        "active": true,
        "id": "COSM878"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1367181",
        "active": true,
        "id": "COSM1367181"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=420530[alleleid]",
        "alleleId": 420530,
        "preferredName": "NM_000321.3(RB1):c.751C>T (p.Arg251Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/428681",
        "RCV": [
          "RCV000492399",
          "RCV000548468"
        ],
        "variationId": 428681
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.48936983C>T?assembly=hg19",
        "id": "chr13:g.48936983C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.48362847C>T?assembly=hg38",
        "id": "chr13:g.48362847C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1131690863",
        "rs": 1131690863
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 48362847,
          "referenceAllele": "C",
          "start": 48362846
        }
      ],
      "hgvs": [
        "NC_000013.11:g.48362847C>T",
        "CM000675.2:g.48362847C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 48936983,
          "referenceAllele": "C",
          "start": 48936982
        }
      ],
      "hgvs": [
        "NC_000013.10:g.48936983C>T",
        "CM000675.1:g.48936983C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 47834984,
          "referenceAllele": "C",
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        }
      ],
      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
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          "end": 64101,
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          "start": 64100
        }
      ],
      "hgvs": [
        "NG_009009.1:g.64101C>T",
        "LRG_517:g.64101C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001377"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 913,
          "referenceAllele": "C",
          "start": 912
        }
      ],
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      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000267163.6:c.751C>T"
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742979",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000267163.6:c.751C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000321.3:c.751C>T"
          }
        },
        "protein": {
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            "hgvs": "ENSP00000267163.4:p.Arg251Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000312.2:p.Arg251Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 917,
          "referenceAllele": "C",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000650461.1:c.751C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497193.1:p.Arg251Ter",
        "hgvsWellDefined": "ENSP00000497193.1:p.Arg251_Glu923delinsThrProArgArgGlyGlnAsnArgSerAlaArgIleAlaLysGlnLeuGluAsnAspThrArgIleIleGluValLeuCysLysGluHisGluCysAsnIleAspGluValLysAsnValTyrPheLysAsnPheIleProPheMetAsnSerLeuGlyLeuValThrSerAsnGlyLeuProGluValGluAsnLeuSerLysArgTyrGluGluIleTyrLeuLysAsnLysAspLeuAspAlaArgLeuPheLeuAspHisAspLysThrLeuGlnThrAspSerIleAspSerPheGluThrGlnArgThrProArgLysSerAsnLeuAspGluGluValAsnValIleProProHisThrProValArgThrValMetAsnThrIleGlnGlnLeuMetMetIleLeuAsnSerAlaSerAspGlnProSerGluAsnLeuIleSerTyrPheAsnAsnCysThrValAsnProLysGluSerIleLeuLysArgValLysAspIleGlyTyrIlePheLysGluLysPheAlaLysAlaValGlyGlnGlyCysValGluIleGlySerGlnArgTyrLysLeuGlyValArgLeuTyrTyrArgValMetGluSerMetLeuLysSerGluGluGluArgLeuSerIleGlnAsnPheSerLysLeuLeuAsnAspAsnIlePheHisMetSerLeuLeuAlaCysAlaLeuGluValValMetAlaThrTyrSerArgSerThrSerGlnAsnLeuAspSerGlyThrAspLeuSerPheProTrpIleLeuAsnValLeuAsnLeuLysAlaPheAspPheTyrLysValIleGluSerPheIleLysAlaGluGlyAsnLeuThrArgGluMetIleLysHisLeuGluArgCysGluHisArgIleMetGluSerLeuAlaTrpLeuSerAspSerProLeuPheAspLeuIleLysGlnSerLysAspArgGluGlyProThrAspHisLeuGluSerAlaCysProLeuAsnLeuProLeuGlnAsnAsnHisThrAlaAlaAspMetTyrLeuSerProValArgSerProLysLysLysGlySerThrThrArgValAsnSerThrAlaAsnAlaGluThrGlnAlaThrSerAlaPheGlnThrGlnLysProLeuLysSerThrSerLeuSerLeuPheTyrLysLysValTyrArgLeuAlaTyrLeuArgLeuAsnThrLeuCysGluArgLeuLeuSerGluHisProGluLeuGluHisIleIleTrpThrLeuPheGlnHisThrLeuGlnAsnGluTyrGluLeuMetArgAspArgHisLeuAspGlnIleMetMetCysSerMetTyrGlyIleCysLysValLysAsnIleAspLeuLysPheLysIleIleValThrAlaTyrLysAspLeuProHisAlaValGlnGluThrPheLysArgValLeuIleLysGluGluGluTyrAspSerIleIleValPheTyrAsnSerValPheMetGlnArgLeuLysThrAsnIleLeuGlnTyrAlaSerThrArgProProThrLeuSerProIleProHisIleProArgSerProTyrLysPheProSerSerProLeuArgIleProGlyGlyAsnIleTyrIleSerProLeuLysSerProTyrLysIleSerGluGlyLeuProThrProThrLysMetThrProArgSerArgIleLeuValSerIleGlyGluSerPheGlyThrSerGluLysPheGlnLysIleAsnGlnMetValCysAsnSerAspArgValLeuLysArgSerAlaGluGlySerAsnProProLysProLeuLysLysLeuArgPheAspIleGluGlySerAspGluAlaAspGlySerLysHisLeuProGlyGluSerLysPheGlnGlnLysLeuAlaGluMetIleLeuHisProPheSerSerPheTyrSerAsnThrAsnAlaLysAlaGluAsnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 889,
          "referenceAllele": "C",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000267163.4:c.751C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267163.4:p.Arg251Ter",
        "hgvsWellDefined": "ENSP00000267163.4:p.Arg251_Lys928delinsThrProArgArgGlyGlnAsnArgSerAlaArgIleAlaLysGlnLeuGluAsnAspThrArgIleIleGluValLeuCysLysGluHisGluCysAsnIleAspGluValLysAsnValTyrPheLysAsnPheIleProPheMetAsnSerLeuGlyLeuValThrSerAsnGlyLeuProGluValGluAsnLeuSerLysArgTyrGluGluIleTyrLeuLysAsnLysAspLeuAspAlaArgLeuPheLeuAspHisAspLysThrLeuGlnThrAspSerIleAspSerPheGluThrGlnArgThrProArgLysSerAsnLeuAspGluGluValAsnValIleProProHisThrProValArgThrValMetAsnThrIleGlnGlnLeuMetMetIleLeuAsnSerAlaSerAspGlnProSerGluAsnLeuIleSerTyrPheAsnAsnCysThrValAsnProLysGluSerIleLeuLysArgValLysAspIleGlyTyrIlePheLysGluLysPheAlaLysAlaValGlyGlnGlyCysValGluIleGlySerGlnArgTyrLysLeuGlyValArgLeuTyrTyrArgValMetGluSerMetLeuLysSerGluGluGluArgLeuSerIleGlnAsnPheSerLysLeuLeuAsnAspAsnIlePheHisMetSerLeuLeuAlaCysAlaLeuGluValValMetAlaThrTyrSerArgSerThrSerGlnAsnLeuAspSerGlyThrAspLeuSerPheProTrpIleLeuAsnValLeuAsnLeuLysAlaPheAspPheTyrLysValIleGluSerPheIleLysAlaGluGlyAsnLeuThrArgGluMetIleLysHisLeuGluArgCysGluHisArgIleMetGluSerLeuAlaTrpLeuSerAspSerProLeuPheAspLeuIleLysGlnSerLysAspArgGluGlyProThrAspHisLeuGluSerAlaCysProLeuAsnLeuProLeuGlnAsnAsnHisThrAlaAlaAspMetTyrLeuSerProValArgSerProLysLysLysGlySerThrThrArgValAsnSerThrAlaAsnAlaGluThrGlnAlaThrSerAlaPheGlnThrGlnLysProLeuLysSerThrSerLeuSerLeuPheTyrLysLysValTyrArgLeuAlaTyrLeuArgLeuAsnThrLeuCysGluArgLeuLeuSerGluHisProGluLeuGluHisIleIleTrpThrLeuPheGlnHisThrLeuGlnAsnGluTyrGluLeuMetArgAspArgHisLeuAspGlnIleMetMetCysSerMetTyrGlyIleCysLysValLysAsnIleAspLeuLysPheLysIleIleValThrAlaTyrLysAspLeuProHisAlaValGlnGluThrPheLysArgValLeuIleLysGluGluGluTyrAspSerIleIleValPheTyrAsnSerValPheMetGlnArgLeuLysThrAsnIleLeuGlnTyrAlaSerThrArgProProThrLeuSerProIleProHisIleProArgSerProTyrLysPheProSerSerProLeuArgIleProGlyGlyAsnIleTyrIleSerProLeuLysSerProTyrLysIleSerGluGlyLeuProThrProThrLysMetThrProArgSerArgIleLeuValSerIleGlyGluSerPheGlyThrSerGluLysPheGlnLysIleAsnGlnMetValCysAsnSerAspArgValLeuLysArgSerAlaGluGlySerAsnProProLysProLeuLysLysLeuArgPheAspIleGluGlySerAspGluAlaAspGlySerLysHisLeuProGlyGluSerLysPheGlnGlnLysLeuAlaGluMetThrSerThrArgThrArgMetGlnLysGlnLysMetAsnAspSerMetAspThrSerAsnLysGluGluLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 419,
          "referenceAllele": "C",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000467505.5:c.*119C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434702.1:n.*119C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS310623"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645413644",
      "coordinates": [
        {
          "allele": "T",
          "end": 917,
          "referenceAllele": "C",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "NM_000321.2:c.751C>T",
        "LRG_517t1:c.751C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000312.2:p.Arg251Ter",
        "hgvsWellDefined": "NP_000312.2:p.Arg251_Lys928delinsThrProArgArgGlyGlnAsnArgSerAlaArgIleAlaLysGlnLeuGluAsnAspThrArgIleIleGluValLeuCysLysGluHisGluCysAsnIleAspGluValLysAsnValTyrPheLysAsnPheIleProPheMetAsnSerLeuGlyLeuValThrSerAsnGlyLeuProGluValGluAsnLeuSerLysArgTyrGluGluIleTyrLeuLysAsnLysAspLeuAspAlaArgLeuPheLeuAspHisAspLysThrLeuGlnThrAspSerIleAspSerPheGluThrGlnArgThrProArgLysSerAsnLeuAspGluGluValAsnValIleProProHisThrProValArgThrValMetAsnThrIleGlnGlnLeuMetMetIleLeuAsnSerAlaSerAspGlnProSerGluAsnLeuIleSerTyrPheAsnAsnCysThrValAsnProLysGluSerIleLeuLysArgValLysAspIleGlyTyrIlePheLysGluLysPheAlaLysAlaValGlyGlnGlyCysValGluIleGlySerGlnArgTyrLysLeuGlyValArgLeuTyrTyrArgValMetGluSerMetLeuLysSerGluGluGluArgLeuSerIleGlnAsnPheSerLysLeuLeuAsnAspAsnIlePheHisMetSerLeuLeuAlaCysAlaLeuGluValValMetAlaThrTyrSerArgSerThrSerGlnAsnLeuAspSerGlyThrAspLeuSerPheProTrpIleLeuAsnValLeuAsnLeuLysAlaPheAspPheTyrLysValIleGluSerPheIleLysAlaGluGlyAsnLeuThrArgGluMetIleLysHisLeuGluArgCysGluHisArgIleMetGluSerLeuAlaTrpLeuSerAspSerProLeuPheAspLeuIleLysGlnSerLysAspArgGluGlyProThrAspHisLeuGluSerAlaCysProLeuAsnLeuProLeuGlnAsnAsnHisThrAlaAlaAspMetTyrLeuSerProValArgSerProLysLysLysGlySerThrThrArgValAsnSerThrAlaAsnAlaGluThrGlnAlaThrSerAlaPheGlnThrGlnLysProLeuLysSerThrSerLeuSerLeuPheTyrLysLysValTyrArgLeuAlaTyrLeuArgLeuAsnThrLeuCysGluArgLeuLeuSerGluHisProGluLeuGluHisIleIleTrpThrLeuPheGlnHisThrLeuGlnAsnGluTyrGluLeuMetArgAspArgHisLeuAspGlnIleMetMetCysSerMetTyrGlyIleCysLysValLysAsnIleAspLeuLysPheLysIleIleValThrAlaTyrLysAspLeuProHisAlaValGlnGluThrPheLysArgValLeuIleLysGluGluGluTyrAspSerIleIleValPheTyrAsnSerValPheMetGlnArgLeuLysThrAsnIleLeuGlnTyrAlaSerThrArgProProThrLeuSerProIleProHisIleProArgSerProTyrLysPheProSerSerProLeuArgIleProGlyGlyAsnIleTyrIleSerProLeuLysSerProTyrLysIleSerGluGlyLeuProThrProThrLysMetThrProArgSerArgIleLeuValSerIleGlyGluSerPheGlyThrSerGluLysPheGlnLysIleAsnGlnMetValCysAsnSerAspArgValLeuLysArgSerAlaGluGlySerAsnProProLysProLeuLysLysLeuArgPheAspIleGluGlySerAspGluAlaAspGlySerLysHisLeuProGlyGluSerLysPheGlnGlnLysLeuAlaGluMetThrSerThrArgThrArgMetGlnLysGlnLysMetAsnAspSerMetAspThrSerAsnLysGluGluLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 505,
          "referenceAllele": "C",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "XM_011535171.1:c.490C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533473.1:p.Arg164Ter",
        "hgvsWellDefined": "XP_011533473.1:p.Arg164_Lys841delinsThrProArgArgGlyGlnAsnArgSerAlaArgIleAlaLysGlnLeuGluAsnAspThrArgIleIleGluValLeuCysLysGluHisGluCysAsnIleAspGluValLysAsnValTyrPheLysAsnPheIleProPheMetAsnSerLeuGlyLeuValThrSerAsnGlyLeuProGluValGluAsnLeuSerLysArgTyrGluGluIleTyrLeuLysAsnLysAspLeuAspAlaArgLeuPheLeuAspHisAspLysThrLeuGlnThrAspSerIleAspSerPheGluThrGlnArgThrProArgLysSerAsnLeuAspGluGluValAsnValIleProProHisThrProValArgThrValMetAsnThrIleGlnGlnLeuMetMetIleLeuAsnSerAlaSerAspGlnProSerGluAsnLeuIleSerTyrPheAsnAsnCysThrValAsnProLysGluSerIleLeuLysArgValLysAspIleGlyTyrIlePheLysGluLysPheAlaLysAlaValGlyGlnGlyCysValGluIleGlySerGlnArgTyrLysLeuGlyValArgLeuTyrTyrArgValMetGluSerMetLeuLysSerGluGluGluArgLeuSerIleGlnAsnPheSerLysLeuLeuAsnAspAsnIlePheHisMetSerLeuLeuAlaCysAlaLeuGluValValMetAlaThrTyrSerArgSerThrSerGlnAsnLeuAspSerGlyThrAspLeuSerPheProTrpIleLeuAsnValLeuAsnLeuLysAlaPheAspPheTyrLysValIleGluSerPheIleLysAlaGluGlyAsnLeuThrArgGluMetIleLysHisLeuGluArgCysGluHisArgIleMetGluSerLeuAlaTrpLeuSerAspSerProLeuPheAspLeuIleLysGlnSerLysAspArgGluGlyProThrAspHisLeuGluSerAlaCysProLeuAsnLeuProLeuGlnAsnAsnHisThrAlaAlaAspMetTyrLeuSerProValArgSerProLysLysLysGlySerThrThrArgValAsnSerThrAlaAsnAlaGluThrGlnAlaThrSerAlaPheGlnThrGlnLysProLeuLysSerThrSerLeuSerLeuPheTyrLysLysValTyrArgLeuAlaTyrLeuArgLeuAsnThrLeuCysGluArgLeuLeuSerGluHisProGluLeuGluHisIleIleTrpThrLeuPheGlnHisThrLeuGlnAsnGluTyrGluLeuMetArgAspArgHisLeuAspGlnIleMetMetCysSerMetTyrGlyIleCysLysValLysAsnIleAspLeuLysPheLysIleIleValThrAlaTyrLysAspLeuProHisAlaValGlnGluThrPheLysArgValLeuIleLysGluGluGluTyrAspSerIleIleValPheTyrAsnSerValPheMetGlnArgLeuLysThrAsnIleLeuGlnTyrAlaSerThrArgProProThrLeuSerProIleProHisIleProArgSerProTyrLysPheProSerSerProLeuArgIleProGlyGlyAsnIleTyrIleSerProLeuLysSerProTyrLysIleSerGluGlyLeuProThrProThrLysMetThrProArgSerArgIleLeuValSerIleGlyGluSerPheGlyThrSerGluLysPheGlnLysIleAsnGlnMetValCysAsnSerAspArgValLeuLysArgSerAlaGluGlySerAsnProProLysProLeuLysLysLeuArgPheAspIleGluGlySerAspGluAlaAspGlySerLysHisLeuProGlyGluSerLysPheGlnGlnLysLeuAlaGluMetThrSerThrArgThrArgMetGlnLysGlnLysMetAsnAspSerMetAspThrSerAsnLysGluGluLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102180"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 506,
          "referenceAllele": "C",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "XM_011535171.2:c.490C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533473.1:p.Arg164Ter",
        "hgvsWellDefined": "XP_011533473.1:p.Arg164_Lys841delinsThrProArgArgGlyGlnAsnArgSerAlaArgIleAlaLysGlnLeuGluAsnAspThrArgIleIleGluValLeuCysLysGluHisGluCysAsnIleAspGluValLysAsnValTyrPheLysAsnPheIleProPheMetAsnSerLeuGlyLeuValThrSerAsnGlyLeuProGluValGluAsnLeuSerLysArgTyrGluGluIleTyrLeuLysAsnLysAspLeuAspAlaArgLeuPheLeuAspHisAspLysThrLeuGlnThrAspSerIleAspSerPheGluThrGlnArgThrProArgLysSerAsnLeuAspGluGluValAsnValIleProProHisThrProValArgThrValMetAsnThrIleGlnGlnLeuMetMetIleLeuAsnSerAlaSerAspGlnProSerGluAsnLeuIleSerTyrPheAsnAsnCysThrValAsnProLysGluSerIleLeuLysArgValLysAspIleGlyTyrIlePheLysGluLysPheAlaLysAlaValGlyGlnGlyCysValGluIleGlySerGlnArgTyrLysLeuGlyValArgLeuTyrTyrArgValMetGluSerMetLeuLysSerGluGluGluArgLeuSerIleGlnAsnPheSerLysLeuLeuAsnAspAsnIlePheHisMetSerLeuLeuAlaCysAlaLeuGluValValMetAlaThrTyrSerArgSerThrSerGlnAsnLeuAspSerGlyThrAspLeuSerPheProTrpIleLeuAsnValLeuAsnLeuLysAlaPheAspPheTyrLysValIleGluSerPheIleLysAlaGluGlyAsnLeuThrArgGluMetIleLysHisLeuGluArgCysGluHisArgIleMetGluSerLeuAlaTrpLeuSerAspSerProLeuPheAspLeuIleLysGlnSerLysAspArgGluGlyProThrAspHisLeuGluSerAlaCysProLeuAsnLeuProLeuGlnAsnAsnHisThrAlaAlaAspMetTyrLeuSerProValArgSerProLysLysLysGlySerThrThrArgValAsnSerThrAlaAsnAlaGluThrGlnAlaThrSerAlaPheGlnThrGlnLysProLeuLysSerThrSerLeuSerLeuPheTyrLysLysValTyrArgLeuAlaTyrLeuArgLeuAsnThrLeuCysGluArgLeuLeuSerGluHisProGluLeuGluHisIleIleTrpThrLeuPheGlnHisThrLeuGlnAsnGluTyrGluLeuMetArgAspArgHisLeuAspGlnIleMetMetCysSerMetTyrGlyIleCysLysValLysAsnIleAspLeuLysPheLysIleIleValThrAlaTyrLysAspLeuProHisAlaValGlnGluThrPheLysArgValLeuIleLysGluGluGluTyrAspSerIleIleValPheTyrAsnSerValPheMetGlnArgLeuLysThrAsnIleLeuGlnTyrAlaSerThrArgProProThrLeuSerProIleProHisIleProArgSerProTyrLysPheProSerSerProLeuArgIleProGlyGlyAsnIleTyrIleSerProLeuLysSerProTyrLysIleSerGluGlyLeuProThrProThrLysMetThrProArgSerArgIleLeuValSerIleGlyGluSerPheGlyThrSerGluLysPheGlnLysIleAsnGlnMetValCysAsnSerAspArgValLeuLysArgSerAlaGluGlySerAsnProProLysProLeuLysLysLeuArgPheAspIleGluGlySerAspGluAlaAspGlySerLysHisLeuProGlyGluSerLysPheGlnGlnLysLeuAlaGluMetThrSerThrArgThrArgMetGlnLysGlnLysMetAsnAspSerMetAspThrSerAsnLysGluGluLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551929"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645413644",
      "coordinates": [
        {
          "allele": "T",
          "end": 913,
          "referenceAllele": "C",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "NM_000321.3:c.751C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000312.2:p.Arg251Ter",
        "hgvsWellDefined": "NP_000312.2:p.Arg251_Lys928delinsThrProArgArgGlyGlnAsnArgSerAlaArgIleAlaLysGlnLeuGluAsnAspThrArgIleIleGluValLeuCysLysGluHisGluCysAsnIleAspGluValLysAsnValTyrPheLysAsnPheIleProPheMetAsnSerLeuGlyLeuValThrSerAsnGlyLeuProGluValGluAsnLeuSerLysArgTyrGluGluIleTyrLeuLysAsnLysAspLeuAspAlaArgLeuPheLeuAspHisAspLysThrLeuGlnThrAspSerIleAspSerPheGluThrGlnArgThrProArgLysSerAsnLeuAspGluGluValAsnValIleProProHisThrProValArgThrValMetAsnThrIleGlnGlnLeuMetMetIleLeuAsnSerAlaSerAspGlnProSerGluAsnLeuIleSerTyrPheAsnAsnCysThrValAsnProLysGluSerIleLeuLysArgValLysAspIleGlyTyrIlePheLysGluLysPheAlaLysAlaValGlyGlnGlyCysValGluIleGlySerGlnArgTyrLysLeuGlyValArgLeuTyrTyrArgValMetGluSerMetLeuLysSerGluGluGluArgLeuSerIleGlnAsnPheSerLysLeuLeuAsnAspAsnIlePheHisMetSerLeuLeuAlaCysAlaLeuGluValValMetAlaThrTyrSerArgSerThrSerGlnAsnLeuAspSerGlyThrAspLeuSerPheProTrpIleLeuAsnValLeuAsnLeuLysAlaPheAspPheTyrLysValIleGluSerPheIleLysAlaGluGlyAsnLeuThrArgGluMetIleLysHisLeuGluArgCysGluHisArgIleMetGluSerLeuAlaTrpLeuSerAspSerProLeuPheAspLeuIleLysGlnSerLysAspArgGluGlyProThrAspHisLeuGluSerAlaCysProLeuAsnLeuProLeuGlnAsnAsnHisThrAlaAlaAspMetTyrLeuSerProValArgSerProLysLysLysGlySerThrThrArgValAsnSerThrAlaAsnAlaGluThrGlnAlaThrSerAlaPheGlnThrGlnLysProLeuLysSerThrSerLeuSerLeuPheTyrLysLysValTyrArgLeuAlaTyrLeuArgLeuAsnThrLeuCysGluArgLeuLeuSerGluHisProGluLeuGluHisIleIleTrpThrLeuPheGlnHisThrLeuGlnAsnGluTyrGluLeuMetArgAspArgHisLeuAspGlnIleMetMetCysSerMetTyrGlyIleCysLysValLysAsnIleAspLeuLysPheLysIleIleValThrAlaTyrLysAspLeuProHisAlaValGlnGluThrPheLysArgValLeuIleLysGluGluGluTyrAspSerIleIleValPheTyrAsnSerValPheMetGlnArgLeuLysThrAsnIleLeuGlnTyrAlaSerThrArgProProThrLeuSerProIleProHisIleProArgSerProTyrLysPheProSerSerProLeuArgIleProGlyGlyAsnIleTyrIleSerProLeuLysSerProTyrLysIleSerGluGlyLeuProThrProThrLysMetThrProArgSerArgIleLeuValSerIleGlyGluSerPheGlyThrSerGluLysPheGlnLysIleAsnGlnMetValCysAsnSerAspArgValLeuLysArgSerAlaGluGlySerAsnProProLysProLeuLysLysLeuArgPheAspIleGluGlySerAspGluAlaAspGlySerLysHisLeuProGlyGluSerLysPheGlnGlnLysLeuAlaGluMetThrSerThrArgThrArgMetGlnLysGlnLysMetAsnAspSerMetAspThrSerAsnLysGluGluLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710824",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267163.6:c.751C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000321.3:c.751C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267163.4:p.Arg251Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000312.2:p.Arg251Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}