{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA026458",
  "communityStandardTitle": [
    "NM_000321.3(RB1):c.446C>G (p.Ser149Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=132322[alleleid]",
        "alleleId": 132322,
        "preferredName": "NM_000321.3(RB1):c.446C>G (p.Ser149Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/126812",
        "RCV": [
          "RCV000114704",
          "RCV002326809"
        ],
        "variationId": 126812
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.48919281C>G?assembly=hg19",
        "id": "chr13:g.48919281C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.48345145C>G?assembly=hg38",
        "id": "chr13:g.48345145C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587778870",
        "rs": 587778870
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 48345145,
          "referenceAllele": "C",
          "start": 48345144
        }
      ],
      "hgvs": [
        "NC_000013.11:g.48345145C>G",
        "CM000675.2:g.48345145C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 48919281,
          "referenceAllele": "C",
          "start": 48919280
        }
      ],
      "hgvs": [
        "NC_000013.10:g.48919281C>G",
        "CM000675.1:g.48919281C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 47817282,
          "referenceAllele": "C",
          "start": 47817281
        }
      ],
      "hgvs": [
        "NC_000013.9:g.47817282C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 46399,
          "referenceAllele": "C",
          "start": 46398
        }
      ],
      "hgvs": [
        "NG_009009.1:g.46399C>G",
        "LRG_517:g.46399C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001377"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 608,
          "referenceAllele": "C",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000267163.6:c.446C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267163.4:p.Ser149Ter",
        "hgvsWellDefined": "ENSP00000267163.4:p.Ser149_Lys928delinsArgLeuLeuLysLysTyrAspValLeuPheAlaLeuPheSerLysLeuGluArgThrCysGluLeuIleTyrLeuThrGlnProSerSerSerIleSerThrGluIleAsnSerAlaLeuValLeuLysValSerTrpIleThrPheLeuLeuAlaLysGlyGluValLeuGlnMetGluAspAspLeuValIleSerPheGlnLeuMetLeuCysValLeuAspTyrPheIleLysLeuSerProProMetLeuLeuLysGluProTyrLysThrAlaValIleProIleAsnGlySerProArgThrProArgArgGlyGlnAsnArgSerAlaArgIleAlaLysGlnLeuGluAsnAspThrArgIleIleGluValLeuCysLysGluHisGluCysAsnIleAspGluValLysAsnValTyrPheLysAsnPheIleProPheMetAsnSerLeuGlyLeuValThrSerAsnGlyLeuProGluValGluAsnLeuSerLysArgTyrGluGluIleTyrLeuLysAsnLysAspLeuAspAlaArgLeuPheLeuAspHisAspLysThrLeuGlnThrAspSerIleAspSerPheGluThrGlnArgThrProArgLysSerAsnLeuAspGluGluValAsnValIleProProHisThrProValArgThrValMetAsnThrIleGlnGlnLeuMetMetIleLeuAsnSerAlaSerAspGlnProSerGluAsnLeuIleSerTyrPheAsnAsnCysThrValAsnProLysGluSerIleLeuLysArgValLysAspIleGlyTyrIlePheLysGluLysPheAlaLysAlaValGlyGlnGlyCysValGluIleGlySerGlnArgTyrLysLeuGlyValArgLeuTyrTyrArgValMetGluSerMetLeuLysSerGluGluGluArgLeuSerIleGlnAsnPheSerLysLeuLeuAsnAspAsnIlePheHisMetSerLeuLeuAlaCysAlaLeuGluValValMetAlaThrTyrSerArgSerThrSerGlnAsnLeuAspSerGlyThrAspLeuSerPheProTrpIleLeuAsnValLeuAsnLeuLysAlaPheAspPheTyrLysValIleGluSerPheIleLysAlaGluGlyAsnLeuThrArgGluMetIleLysHisLeuGluArgCysGluHisArgIleMetGluSerLeuAlaTrpLeuSerAspSerProLeuPheAspLeuIleLysGlnSerLysAspArgGluGlyProThrAspHisLeuGluSerAlaCysProLeuAsnLeuProLeuGlnAsnAsnHisThrAlaAlaAspMetTyrLeuSerProValArgSerProLysLysLysGlySerThrThrArgValAsnSerThrAlaAsnAlaGluThrGlnAlaThrSerAlaPheGlnThrGlnLysProLeuLysSerThrSerLeuSerLeuPheTyrLysLysValTyrArgLeuAlaTyrLeuArgLeuAsnThrLeuCysGluArgLeuLeuSerGluHisProGluLeuGluHisIleIleTrpThrLeuPheGlnHisThrLeuGlnAsnGluTyrGluLeuMetArgAspArgHisLeuAspGlnIleMetMetCysSerMetTyrGlyIleCysLysValLysAsnIleAspLeuLysPheLysIleIleValThrAlaTyrLysAspLeuProHisAlaValGlnGluThrPheLysArgValLeuIleLysGluGluGluTyrAspSerIleIleValPheTyrAsnSerValPheMetGlnArgLeuLysThrAsnIleLeuGlnTyrAlaSerThrArgProProThrLeuSerProIleProHisIleProArgSerProTyrLysPheProSerSerProLeuArgIleProGlyGlyAsnIleTyrIleSerProLeuLysSerProTyrLysIleSerGluGlyLeuProThrProThrLysMetThrProArgSerArgIleLeuValSerIleGlyGluSerPheGlyThrSerGluLysPheGlnLysIleAsnGlnMetValCysAsnSerAspArgValLeuLysArgSerAlaGluGlySerAsnProProLysProLeuLysLysLeuArgPheAspIleGluGlySerAspGluAlaAspGlySerLysHisLeuProGlyGluSerLysPheGlnGlnLysLeuAlaGluMetThrSerThrArgThrArgMetGlnLysGlnLysMetAsnAspSerMetAspThrSerAsnLysGluGluLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742979",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267163.6:c.446C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000321.3:c.446C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267163.4:p.Ser149Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000312.2:p.Ser149Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 612,
          "referenceAllele": "C",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000650461.1:c.446C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497193.1:p.Ser149Ter",
        "hgvsWellDefined": "ENSP00000497193.1:p.Ser149_Glu923delinsArgLeuLeuLysLysTyrAspValLeuPheAlaLeuPheSerLysLeuGluArgThrCysGluLeuIleTyrLeuThrGlnProSerSerSerIleSerThrGluIleAsnSerAlaLeuValLeuLysValSerTrpIleThrPheLeuLeuAlaLysGlyGluValLeuGlnMetGluAspAspLeuValIleSerPheGlnLeuMetLeuCysValLeuAspTyrPheIleLysLeuSerProProMetLeuLeuLysGluProTyrLysThrAlaValIleProIleAsnGlySerProArgThrProArgArgGlyGlnAsnArgSerAlaArgIleAlaLysGlnLeuGluAsnAspThrArgIleIleGluValLeuCysLysGluHisGluCysAsnIleAspGluValLysAsnValTyrPheLysAsnPheIleProPheMetAsnSerLeuGlyLeuValThrSerAsnGlyLeuProGluValGluAsnLeuSerLysArgTyrGluGluIleTyrLeuLysAsnLysAspLeuAspAlaArgLeuPheLeuAspHisAspLysThrLeuGlnThrAspSerIleAspSerPheGluThrGlnArgThrProArgLysSerAsnLeuAspGluGluValAsnValIleProProHisThrProValArgThrValMetAsnThrIleGlnGlnLeuMetMetIleLeuAsnSerAlaSerAspGlnProSerGluAsnLeuIleSerTyrPheAsnAsnCysThrValAsnProLysGluSerIleLeuLysArgValLysAspIleGlyTyrIlePheLysGluLysPheAlaLysAlaValGlyGlnGlyCysValGluIleGlySerGlnArgTyrLysLeuGlyValArgLeuTyrTyrArgValMetGluSerMetLeuLysSerGluGluGluArgLeuSerIleGlnAsnPheSerLysLeuLeuAsnAspAsnIlePheHisMetSerLeuLeuAlaCysAlaLeuGluValValMetAlaThrTyrSerArgSerThrSerGlnAsnLeuAspSerGlyThrAspLeuSerPheProTrpIleLeuAsnValLeuAsnLeuLysAlaPheAspPheTyrLysValIleGluSerPheIleLysAlaGluGlyAsnLeuThrArgGluMetIleLysHisLeuGluArgCysGluHisArgIleMetGluSerLeuAlaTrpLeuSerAspSerProLeuPheAspLeuIleLysGlnSerLysAspArgGluGlyProThrAspHisLeuGluSerAlaCysProLeuAsnLeuProLeuGlnAsnAsnHisThrAlaAlaAspMetTyrLeuSerProValArgSerProLysLysLysGlySerThrThrArgValAsnSerThrAlaAsnAlaGluThrGlnAlaThrSerAlaPheGlnThrGlnLysProLeuLysSerThrSerLeuSerLeuPheTyrLysLysValTyrArgLeuAlaTyrLeuArgLeuAsnThrLeuCysGluArgLeuLeuSerGluHisProGluLeuGluHisIleIleTrpThrLeuPheGlnHisThrLeuGlnAsnGluTyrGluLeuMetArgAspArgHisLeuAspGlnIleMetMetCysSerMetTyrGlyIleCysLysValLysAsnIleAspLeuLysPheLysIleIleValThrAlaTyrLysAspLeuProHisAlaValGlnGluThrPheLysArgValLeuIleLysGluGluGluTyrAspSerIleIleValPheTyrAsnSerValPheMetGlnArgLeuLysThrAsnIleLeuGlnTyrAlaSerThrArgProProThrLeuSerProIleProHisIleProArgSerProTyrLysPheProSerSerProLeuArgIleProGlyGlyAsnIleTyrIleSerProLeuLysSerProTyrLysIleSerGluGlyLeuProThrProThrLysMetThrProArgSerArgIleLeuValSerIleGlyGluSerPheGlyThrSerGluLysPheGlnLysIleAsnGlnMetValCysAsnSerAspArgValLeuLysArgSerAlaGluGlySerAsnProProLysProLeuLysLysLeuArgPheAspIleGluGlySerAspGluAlaAspGlySerLysHisLeuProGlyGluSerLysPheGlnGlnLysLeuAlaGluMetIleLeuHisProPheSerSerPheTyrSerAsnThrAsnAlaLysAlaGluAsnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 584,
          "referenceAllele": "C",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000267163.4:c.446C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267163.4:p.Ser149Ter",
        "hgvsWellDefined": "ENSP00000267163.4:p.Ser149_Lys928delinsArgLeuLeuLysLysTyrAspValLeuPheAlaLeuPheSerLysLeuGluArgThrCysGluLeuIleTyrLeuThrGlnProSerSerSerIleSerThrGluIleAsnSerAlaLeuValLeuLysValSerTrpIleThrPheLeuLeuAlaLysGlyGluValLeuGlnMetGluAspAspLeuValIleSerPheGlnLeuMetLeuCysValLeuAspTyrPheIleLysLeuSerProProMetLeuLeuLysGluProTyrLysThrAlaValIleProIleAsnGlySerProArgThrProArgArgGlyGlnAsnArgSerAlaArgIleAlaLysGlnLeuGluAsnAspThrArgIleIleGluValLeuCysLysGluHisGluCysAsnIleAspGluValLysAsnValTyrPheLysAsnPheIleProPheMetAsnSerLeuGlyLeuValThrSerAsnGlyLeuProGluValGluAsnLeuSerLysArgTyrGluGluIleTyrLeuLysAsnLysAspLeuAspAlaArgLeuPheLeuAspHisAspLysThrLeuGlnThrAspSerIleAspSerPheGluThrGlnArgThrProArgLysSerAsnLeuAspGluGluValAsnValIleProProHisThrProValArgThrValMetAsnThrIleGlnGlnLeuMetMetIleLeuAsnSerAlaSerAspGlnProSerGluAsnLeuIleSerTyrPheAsnAsnCysThrValAsnProLysGluSerIleLeuLysArgValLysAspIleGlyTyrIlePheLysGluLysPheAlaLysAlaValGlyGlnGlyCysValGluIleGlySerGlnArgTyrLysLeuGlyValArgLeuTyrTyrArgValMetGluSerMetLeuLysSerGluGluGluArgLeuSerIleGlnAsnPheSerLysLeuLeuAsnAspAsnIlePheHisMetSerLeuLeuAlaCysAlaLeuGluValValMetAlaThrTyrSerArgSerThrSerGlnAsnLeuAspSerGlyThrAspLeuSerPheProTrpIleLeuAsnValLeuAsnLeuLysAlaPheAspPheTyrLysValIleGluSerPheIleLysAlaGluGlyAsnLeuThrArgGluMetIleLysHisLeuGluArgCysGluHisArgIleMetGluSerLeuAlaTrpLeuSerAspSerProLeuPheAspLeuIleLysGlnSerLysAspArgGluGlyProThrAspHisLeuGluSerAlaCysProLeuAsnLeuProLeuGlnAsnAsnHisThrAlaAlaAspMetTyrLeuSerProValArgSerProLysLysLysGlySerThrThrArgValAsnSerThrAlaAsnAlaGluThrGlnAlaThrSerAlaPheGlnThrGlnLysProLeuLysSerThrSerLeuSerLeuPheTyrLysLysValTyrArgLeuAlaTyrLeuArgLeuAsnThrLeuCysGluArgLeuLeuSerGluHisProGluLeuGluHisIleIleTrpThrLeuPheGlnHisThrLeuGlnAsnGluTyrGluLeuMetArgAspArgHisLeuAspGlnIleMetMetCysSerMetTyrGlyIleCysLysValLysAsnIleAspLeuLysPheLysIleIleValThrAlaTyrLysAspLeuProHisAlaValGlnGluThrPheLysArgValLeuIleLysGluGluGluTyrAspSerIleIleValPheTyrAsnSerValPheMetGlnArgLeuLysThrAsnIleLeuGlnTyrAlaSerThrArgProProThrLeuSerProIleProHisIleProArgSerProTyrLysPheProSerSerProLeuArgIleProGlyGlyAsnIleTyrIleSerProLeuLysSerProTyrLysIleSerGluGlyLeuProThrProThrLysMetThrProArgSerArgIleLeuValSerIleGlyGluSerPheGlyThrSerGluLysPheGlnLysIleAsnGlnMetValCysAsnSerAspArgValLeuLysArgSerAlaGluGlySerAsnProProLysProLeuLysLysLeuArgPheAspIleGluGlySerAspGluAlaAspGlySerLysHisLeuProGlyGluSerLysPheGlnGlnLysLeuAlaGluMetThrSerThrArgThrArgMetGlnLysGlnLysMetAsnAspSerMetAspThrSerAsnLysGluGluLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247284"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 275,
          "endIntronDirection": "-",
          "endIntronOffset": 14871,
          "referenceAllele": "C",
          "start": 275,
          "startIntronDirection": "-",
          "startIntronOffset": 14872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000467505.5:c.138-14872C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434702.1:n.138-14872C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS310623"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 608,
          "referenceAllele": "C",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000525036.1:n.608C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351113"
    },
    {
      "@id": "http://reg.genome.network/allele/PA269701",
      "coordinates": [
        {
          "allele": "G",
          "end": 612,
          "referenceAllele": "C",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "NM_000321.2:c.446C>G",
        "LRG_517t1:c.446C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000312.2:p.Ser149Ter",
        "hgvsWellDefined": "NP_000312.2:p.Ser149_Lys928delinsArgLeuLeuLysLysTyrAspValLeuPheAlaLeuPheSerLysLeuGluArgThrCysGluLeuIleTyrLeuThrGlnProSerSerSerIleSerThrGluIleAsnSerAlaLeuValLeuLysValSerTrpIleThrPheLeuLeuAlaLysGlyGluValLeuGlnMetGluAspAspLeuValIleSerPheGlnLeuMetLeuCysValLeuAspTyrPheIleLysLeuSerProProMetLeuLeuLysGluProTyrLysThrAlaValIleProIleAsnGlySerProArgThrProArgArgGlyGlnAsnArgSerAlaArgIleAlaLysGlnLeuGluAsnAspThrArgIleIleGluValLeuCysLysGluHisGluCysAsnIleAspGluValLysAsnValTyrPheLysAsnPheIleProPheMetAsnSerLeuGlyLeuValThrSerAsnGlyLeuProGluValGluAsnLeuSerLysArgTyrGluGluIleTyrLeuLysAsnLysAspLeuAspAlaArgLeuPheLeuAspHisAspLysThrLeuGlnThrAspSerIleAspSerPheGluThrGlnArgThrProArgLysSerAsnLeuAspGluGluValAsnValIleProProHisThrProValArgThrValMetAsnThrIleGlnGlnLeuMetMetIleLeuAsnSerAlaSerAspGlnProSerGluAsnLeuIleSerTyrPheAsnAsnCysThrValAsnProLysGluSerIleLeuLysArgValLysAspIleGlyTyrIlePheLysGluLysPheAlaLysAlaValGlyGlnGlyCysValGluIleGlySerGlnArgTyrLysLeuGlyValArgLeuTyrTyrArgValMetGluSerMetLeuLysSerGluGluGluArgLeuSerIleGlnAsnPheSerLysLeuLeuAsnAspAsnIlePheHisMetSerLeuLeuAlaCysAlaLeuGluValValMetAlaThrTyrSerArgSerThrSerGlnAsnLeuAspSerGlyThrAspLeuSerPheProTrpIleLeuAsnValLeuAsnLeuLysAlaPheAspPheTyrLysValIleGluSerPheIleLysAlaGluGlyAsnLeuThrArgGluMetIleLysHisLeuGluArgCysGluHisArgIleMetGluSerLeuAlaTrpLeuSerAspSerProLeuPheAspLeuIleLysGlnSerLysAspArgGluGlyProThrAspHisLeuGluSerAlaCysProLeuAsnLeuProLeuGlnAsnAsnHisThrAlaAlaAspMetTyrLeuSerProValArgSerProLysLysLysGlySerThrThrArgValAsnSerThrAlaAsnAlaGluThrGlnAlaThrSerAlaPheGlnThrGlnLysProLeuLysSerThrSerLeuSerLeuPheTyrLysLysValTyrArgLeuAlaTyrLeuArgLeuAsnThrLeuCysGluArgLeuLeuSerGluHisProGluLeuGluHisIleIleTrpThrLeuPheGlnHisThrLeuGlnAsnGluTyrGluLeuMetArgAspArgHisLeuAspGlnIleMetMetCysSerMetTyrGlyIleCysLysValLysAsnIleAspLeuLysPheLysIleIleValThrAlaTyrLysAspLeuProHisAlaValGlnGluThrPheLysArgValLeuIleLysGluGluGluTyrAspSerIleIleValPheTyrAsnSerValPheMetGlnArgLeuLysThrAsnIleLeuGlnTyrAlaSerThrArgProProThrLeuSerProIleProHisIleProArgSerProTyrLysPheProSerSerProLeuArgIleProGlyGlyAsnIleTyrIleSerProLeuLysSerProTyrLysIleSerGluGlyLeuProThrProThrLysMetThrProArgSerArgIleLeuValSerIleGlyGluSerPheGlyThrSerGluLysPheGlnLysIleAsnGlnMetValCysAsnSerAspArgValLeuLysArgSerAlaGluGlySerAsnProProLysProLeuLysLysLeuArgPheAspIleGluGlySerAspGluAlaAspGlySerLysHisLeuProGlyGluSerLysPheGlnGlnLysLeuAlaGluMetThrSerThrArgThrArgMetGlnLysGlnLysMetAsnAspSerMetAspThrSerAsnLysGluGluLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006385"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 200,
          "referenceAllele": "C",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "XM_011535171.1:c.185C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533473.1:p.Ser62Ter",
        "hgvsWellDefined": "XP_011533473.1:p.Ser62_Lys841delinsArgLeuLeuLysLysTyrAspValLeuPheAlaLeuPheSerLysLeuGluArgThrCysGluLeuIleTyrLeuThrGlnProSerSerSerIleSerThrGluIleAsnSerAlaLeuValLeuLysValSerTrpIleThrPheLeuLeuAlaLysGlyGluValLeuGlnMetGluAspAspLeuValIleSerPheGlnLeuMetLeuCysValLeuAspTyrPheIleLysLeuSerProProMetLeuLeuLysGluProTyrLysThrAlaValIleProIleAsnGlySerProArgThrProArgArgGlyGlnAsnArgSerAlaArgIleAlaLysGlnLeuGluAsnAspThrArgIleIleGluValLeuCysLysGluHisGluCysAsnIleAspGluValLysAsnValTyrPheLysAsnPheIleProPheMetAsnSerLeuGlyLeuValThrSerAsnGlyLeuProGluValGluAsnLeuSerLysArgTyrGluGluIleTyrLeuLysAsnLysAspLeuAspAlaArgLeuPheLeuAspHisAspLysThrLeuGlnThrAspSerIleAspSerPheGluThrGlnArgThrProArgLysSerAsnLeuAspGluGluValAsnValIleProProHisThrProValArgThrValMetAsnThrIleGlnGlnLeuMetMetIleLeuAsnSerAlaSerAspGlnProSerGluAsnLeuIleSerTyrPheAsnAsnCysThrValAsnProLysGluSerIleLeuLysArgValLysAspIleGlyTyrIlePheLysGluLysPheAlaLysAlaValGlyGlnGlyCysValGluIleGlySerGlnArgTyrLysLeuGlyValArgLeuTyrTyrArgValMetGluSerMetLeuLysSerGluGluGluArgLeuSerIleGlnAsnPheSerLysLeuLeuAsnAspAsnIlePheHisMetSerLeuLeuAlaCysAlaLeuGluValValMetAlaThrTyrSerArgSerThrSerGlnAsnLeuAspSerGlyThrAspLeuSerPheProTrpIleLeuAsnValLeuAsnLeuLysAlaPheAspPheTyrLysValIleGluSerPheIleLysAlaGluGlyAsnLeuThrArgGluMetIleLysHisLeuGluArgCysGluHisArgIleMetGluSerLeuAlaTrpLeuSerAspSerProLeuPheAspLeuIleLysGlnSerLysAspArgGluGlyProThrAspHisLeuGluSerAlaCysProLeuAsnLeuProLeuGlnAsnAsnHisThrAlaAlaAspMetTyrLeuSerProValArgSerProLysLysLysGlySerThrThrArgValAsnSerThrAlaAsnAlaGluThrGlnAlaThrSerAlaPheGlnThrGlnLysProLeuLysSerThrSerLeuSerLeuPheTyrLysLysValTyrArgLeuAlaTyrLeuArgLeuAsnThrLeuCysGluArgLeuLeuSerGluHisProGluLeuGluHisIleIleTrpThrLeuPheGlnHisThrLeuGlnAsnGluTyrGluLeuMetArgAspArgHisLeuAspGlnIleMetMetCysSerMetTyrGlyIleCysLysValLysAsnIleAspLeuLysPheLysIleIleValThrAlaTyrLysAspLeuProHisAlaValGlnGluThrPheLysArgValLeuIleLysGluGluGluTyrAspSerIleIleValPheTyrAsnSerValPheMetGlnArgLeuLysThrAsnIleLeuGlnTyrAlaSerThrArgProProThrLeuSerProIleProHisIleProArgSerProTyrLysPheProSerSerProLeuArgIleProGlyGlyAsnIleTyrIleSerProLeuLysSerProTyrLysIleSerGluGlyLeuProThrProThrLysMetThrProArgSerArgIleLeuValSerIleGlyGluSerPheGlyThrSerGluLysPheGlnLysIleAsnGlnMetValCysAsnSerAspArgValLeuLysArgSerAlaGluGlySerAsnProProLysProLeuLysLysLeuArgPheAspIleGluGlySerAspGluAlaAspGlySerLysHisLeuProGlyGluSerLysPheGlnGlnLysLeuAlaGluMetThrSerThrArgThrArgMetGlnLysGlnLysMetAsnAspSerMetAspThrSerAsnLysGluGluLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102180"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 201,
          "referenceAllele": "C",
          "start": 200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "XM_011535171.2:c.185C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533473.1:p.Ser62Ter",
        "hgvsWellDefined": "XP_011533473.1:p.Ser62_Lys841delinsArgLeuLeuLysLysTyrAspValLeuPheAlaLeuPheSerLysLeuGluArgThrCysGluLeuIleTyrLeuThrGlnProSerSerSerIleSerThrGluIleAsnSerAlaLeuValLeuLysValSerTrpIleThrPheLeuLeuAlaLysGlyGluValLeuGlnMetGluAspAspLeuValIleSerPheGlnLeuMetLeuCysValLeuAspTyrPheIleLysLeuSerProProMetLeuLeuLysGluProTyrLysThrAlaValIleProIleAsnGlySerProArgThrProArgArgGlyGlnAsnArgSerAlaArgIleAlaLysGlnLeuGluAsnAspThrArgIleIleGluValLeuCysLysGluHisGluCysAsnIleAspGluValLysAsnValTyrPheLysAsnPheIleProPheMetAsnSerLeuGlyLeuValThrSerAsnGlyLeuProGluValGluAsnLeuSerLysArgTyrGluGluIleTyrLeuLysAsnLysAspLeuAspAlaArgLeuPheLeuAspHisAspLysThrLeuGlnThrAspSerIleAspSerPheGluThrGlnArgThrProArgLysSerAsnLeuAspGluGluValAsnValIleProProHisThrProValArgThrValMetAsnThrIleGlnGlnLeuMetMetIleLeuAsnSerAlaSerAspGlnProSerGluAsnLeuIleSerTyrPheAsnAsnCysThrValAsnProLysGluSerIleLeuLysArgValLysAspIleGlyTyrIlePheLysGluLysPheAlaLysAlaValGlyGlnGlyCysValGluIleGlySerGlnArgTyrLysLeuGlyValArgLeuTyrTyrArgValMetGluSerMetLeuLysSerGluGluGluArgLeuSerIleGlnAsnPheSerLysLeuLeuAsnAspAsnIlePheHisMetSerLeuLeuAlaCysAlaLeuGluValValMetAlaThrTyrSerArgSerThrSerGlnAsnLeuAspSerGlyThrAspLeuSerPheProTrpIleLeuAsnValLeuAsnLeuLysAlaPheAspPheTyrLysValIleGluSerPheIleLysAlaGluGlyAsnLeuThrArgGluMetIleLysHisLeuGluArgCysGluHisArgIleMetGluSerLeuAlaTrpLeuSerAspSerProLeuPheAspLeuIleLysGlnSerLysAspArgGluGlyProThrAspHisLeuGluSerAlaCysProLeuAsnLeuProLeuGlnAsnAsnHisThrAlaAlaAspMetTyrLeuSerProValArgSerProLysLysLysGlySerThrThrArgValAsnSerThrAlaAsnAlaGluThrGlnAlaThrSerAlaPheGlnThrGlnLysProLeuLysSerThrSerLeuSerLeuPheTyrLysLysValTyrArgLeuAlaTyrLeuArgLeuAsnThrLeuCysGluArgLeuLeuSerGluHisProGluLeuGluHisIleIleTrpThrLeuPheGlnHisThrLeuGlnAsnGluTyrGluLeuMetArgAspArgHisLeuAspGlnIleMetMetCysSerMetTyrGlyIleCysLysValLysAsnIleAspLeuLysPheLysIleIleValThrAlaTyrLysAspLeuProHisAlaValGlnGluThrPheLysArgValLeuIleLysGluGluGluTyrAspSerIleIleValPheTyrAsnSerValPheMetGlnArgLeuLysThrAsnIleLeuGlnTyrAlaSerThrArgProProThrLeuSerProIleProHisIleProArgSerProTyrLysPheProSerSerProLeuArgIleProGlyGlyAsnIleTyrIleSerProLeuLysSerProTyrLysIleSerGluGlyLeuProThrProThrLysMetThrProArgSerArgIleLeuValSerIleGlyGluSerPheGlyThrSerGluLysPheGlnLysIleAsnGlnMetValCysAsnSerAspArgValLeuLysArgSerAlaGluGlySerAsnProProLysProLeuLysLysLeuArgPheAspIleGluGlySerAspGluAlaAspGlySerLysHisLeuProGlyGluSerLysPheGlnGlnLysLeuAlaGluMetThrSerThrArgThrArgMetGlnLysGlnLysMetAsnAspSerMetAspThrSerAsnLysGluGluLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551929"
    },
    {
      "@id": "http://reg.genome.network/allele/PA269701",
      "coordinates": [
        {
          "allele": "G",
          "end": 608,
          "referenceAllele": "C",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "NM_000321.3:c.446C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000312.2:p.Ser149Ter",
        "hgvsWellDefined": "NP_000312.2:p.Ser149_Lys928delinsArgLeuLeuLysLysTyrAspValLeuPheAlaLeuPheSerLysLeuGluArgThrCysGluLeuIleTyrLeuThrGlnProSerSerSerIleSerThrGluIleAsnSerAlaLeuValLeuLysValSerTrpIleThrPheLeuLeuAlaLysGlyGluValLeuGlnMetGluAspAspLeuValIleSerPheGlnLeuMetLeuCysValLeuAspTyrPheIleLysLeuSerProProMetLeuLeuLysGluProTyrLysThrAlaValIleProIleAsnGlySerProArgThrProArgArgGlyGlnAsnArgSerAlaArgIleAlaLysGlnLeuGluAsnAspThrArgIleIleGluValLeuCysLysGluHisGluCysAsnIleAspGluValLysAsnValTyrPheLysAsnPheIleProPheMetAsnSerLeuGlyLeuValThrSerAsnGlyLeuProGluValGluAsnLeuSerLysArgTyrGluGluIleTyrLeuLysAsnLysAspLeuAspAlaArgLeuPheLeuAspHisAspLysThrLeuGlnThrAspSerIleAspSerPheGluThrGlnArgThrProArgLysSerAsnLeuAspGluGluValAsnValIleProProHisThrProValArgThrValMetAsnThrIleGlnGlnLeuMetMetIleLeuAsnSerAlaSerAspGlnProSerGluAsnLeuIleSerTyrPheAsnAsnCysThrValAsnProLysGluSerIleLeuLysArgValLysAspIleGlyTyrIlePheLysGluLysPheAlaLysAlaValGlyGlnGlyCysValGluIleGlySerGlnArgTyrLysLeuGlyValArgLeuTyrTyrArgValMetGluSerMetLeuLysSerGluGluGluArgLeuSerIleGlnAsnPheSerLysLeuLeuAsnAspAsnIlePheHisMetSerLeuLeuAlaCysAlaLeuGluValValMetAlaThrTyrSerArgSerThrSerGlnAsnLeuAspSerGlyThrAspLeuSerPheProTrpIleLeuAsnValLeuAsnLeuLysAlaPheAspPheTyrLysValIleGluSerPheIleLysAlaGluGlyAsnLeuThrArgGluMetIleLysHisLeuGluArgCysGluHisArgIleMetGluSerLeuAlaTrpLeuSerAspSerProLeuPheAspLeuIleLysGlnSerLysAspArgGluGlyProThrAspHisLeuGluSerAlaCysProLeuAsnLeuProLeuGlnAsnAsnHisThrAlaAlaAspMetTyrLeuSerProValArgSerProLysLysLysGlySerThrThrArgValAsnSerThrAlaAsnAlaGluThrGlnAlaThrSerAlaPheGlnThrGlnLysProLeuLysSerThrSerLeuSerLeuPheTyrLysLysValTyrArgLeuAlaTyrLeuArgLeuAsnThrLeuCysGluArgLeuLeuSerGluHisProGluLeuGluHisIleIleTrpThrLeuPheGlnHisThrLeuGlnAsnGluTyrGluLeuMetArgAspArgHisLeuAspGlnIleMetMetCysSerMetTyrGlyIleCysLysValLysAsnIleAspLeuLysPheLysIleIleValThrAlaTyrLysAspLeuProHisAlaValGlnGluThrPheLysArgValLeuIleLysGluGluGluTyrAspSerIleIleValPheTyrAsnSerValPheMetGlnArgLeuLysThrAsnIleLeuGlnTyrAlaSerThrArgProProThrLeuSerProIleProHisIleProArgSerProTyrLysPheProSerSerProLeuArgIleProGlyGlyAsnIleTyrIleSerProLeuLysSerProTyrLysIleSerGluGlyLeuProThrProThrLysMetThrProArgSerArgIleLeuValSerIleGlyGluSerPheGlyThrSerGluLysPheGlnLysIleAsnGlnMetValCysAsnSerAspArgValLeuLysArgSerAlaGluGlySerAsnProProLysProLeuLysLysLeuArgPheAspIleGluGlySerAspGluAlaAspGlySerLysHisLeuProGlyGluSerLysPheGlnGlnLysLeuAlaGluMetThrSerThrArgThrArgMetGlnLysGlnLysMetAsnAspSerMetAspThrSerAsnLysGluGluLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710824",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267163.6:c.446C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000321.3:c.446C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267163.4:p.Ser149Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000312.2:p.Ser149Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}