{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA388158121",
  "communityStandardTitle": [
    "NM_000321.3(RB1):c.619C>T (p.Gln207Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1691303[alleleid]",
        "alleleId": 1691303,
        "preferredName": "NM_000321.3(RB1):c.619C>T (p.Gln207Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1698927",
        "RCV": [
          "RCV002272784"
        ],
        "variationId": 1698927
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.48934164C>T?assembly=hg19",
        "id": "chr13:g.48934164C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.48360028C>T?assembly=hg38",
        "id": "chr13:g.48360028C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2138107604",
        "rs": 2138107604
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 48360028,
          "referenceAllele": "C",
          "start": 48360027
        }
      ],
      "hgvs": [
        "NC_000013.11:g.48360028C>T",
        "CM000675.2:g.48360028C>T"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
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          "end": 48934164,
          "referenceAllele": "C",
          "start": 48934163
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      ],
      "hgvs": [
        "NC_000013.10:g.48934164C>T",
        "CM000675.1:g.48934164C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
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          "end": 47832165,
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          "start": 47832164
        }
      ],
      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
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          "end": 61282,
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          "start": 61281
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      ],
      "hgvs": [
        "NG_009009.1:g.61282C>T",
        "LRG_517:g.61282C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001377"
    }
  ],
  "transcriptAlleles": [
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      "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.619C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000321.3:c.619C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267163.4:p.Gln207Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000312.2:p.Gln207Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 785,
          "referenceAllele": "C",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000650461.1:c.619C>T"
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      "proteinEffect": {
        "hgvs": "ENSP00000497193.1:p.Gln207Ter",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 757,
          "referenceAllele": "C",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000267163.4:c.619C>T"
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      "proteinEffect": {
        "hgvs": "ENSP00000267163.4:p.Gln207Ter",
        "hgvsWellDefined": "ENSP00000267163.4:p.Gln207_Lys928delinsMetGluAspAspLeuValIleSerPheGlnLeuMetLeuCysValLeuAspTyrPheIleLysLeuSerProProMetLeuLeuLysGluProTyrLysThrAlaValIleProIleAsnGlySerProArgThrProArgArgGlyGlnAsnArgSerAlaArgIleAlaLysGlnLeuGluAsnAspThrArgIleIleGluValLeuCysLysGluHisGluCysAsnIleAspGluValLysAsnValTyrPheLysAsnPheIleProPheMetAsnSerLeuGlyLeuValThrSerAsnGlyLeuProGluValGluAsnLeuSerLysArgTyrGluGluIleTyrLeuLysAsnLysAspLeuAspAlaArgLeuPheLeuAspHisAspLysThrLeuGlnThrAspSerIleAspSerPheGluThrGlnArgThrProArgLysSerAsnLeuAspGluGluValAsnValIleProProHisThrProValArgThrValMetAsnThrIleGlnGlnLeuMetMetIleLeuAsnSerAlaSerAspGlnProSerGluAsnLeuIleSerTyrPheAsnAsnCysThrValAsnProLysGluSerIleLeuLysArgValLysAspIleGlyTyrIlePheLysGluLysPheAlaLysAlaValGlyGlnGlyCysValGluIleGlySerGlnArgTyrLysLeuGlyValArgLeuTyrTyrArgValMetGluSerMetLeuLysSerGluGluGluArgLeuSerIleGlnAsnPheSerLysLeuLeuAsnAspAsnIlePheHisMetSerLeuLeuAlaCysAlaLeuGluValValMetAlaThrTyrSerArgSerThrSerGlnAsnLeuAspSerGlyThrAspLeuSerPheProTrpIleLeuAsnValLeuAsnLeuLysAlaPheAspPheTyrLysValIleGluSerPheIleLysAlaGluGlyAsnLeuThrArgGluMetIleLysHisLeuGluArgCysGluHisArgIleMetGluSerLeuAlaTrpLeuSerAspSerProLeuPheAspLeuIleLysGlnSerLysAspArgGluGlyProThrAspHisLeuGluSerAlaCysProLeuAsnLeuProLeuGlnAsnAsnHisThrAlaAlaAspMetTyrLeuSerProValArgSerProLysLysLysGlySerThrThrArgValAsnSerThrAlaAsnAlaGluThrGlnAlaThrSerAlaPheGlnThrGlnLysProLeuLysSerThrSerLeuSerLeuPheTyrLysLysValTyrArgLeuAlaTyrLeuArgLeuAsnThrLeuCysGluArgLeuLeuSerGluHisProGluLeuGluHisIleIleTrpThrLeuPheGlnHisThrLeuGlnAsnGluTyrGluLeuMetArgAspArgHisLeuAspGlnIleMetMetCysSerMetTyrGlyIleCysLysValLysAsnIleAspLeuLysPheLysIleIleValThrAlaTyrLysAspLeuProHisAlaValGlnGluThrPheLysArgValLeuIleLysGluGluGluTyrAspSerIleIleValPheTyrAsnSerValPheMetGlnArgLeuLysThrAsnIleLeuGlnTyrAlaSerThrArgProProThrLeuSerProIleProHisIleProArgSerProTyrLysPheProSerSerProLeuArgIleProGlyGlyAsnIleTyrIleSerProLeuLysSerProTyrLysIleSerGluGlyLeuProThrProThrLysMetThrProArgSerArgIleLeuValSerIleGlyGluSerPheGlyThrSerGluLysPheGlnLysIleAsnGlnMetValCysAsnSerAspArgValLeuLysArgSerAlaGluGlySerAsnProProLysProLeuLysLysLeuArgPheAspIleGluGlySerAspGluAlaAspGlySerLysHisLeuProGlyGluSerLysPheGlnGlnLysLeuAlaGluMetThrSerThrArgThrArgMetGlnLysGlnLysMetAsnAspSerMetAspThrSerAsnLysGluGluLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 287,
          "referenceAllele": "C",
          "start": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000467505.5:c.149C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434702.1:p.Thr50Ile",
        "hgvsWellDefined": "ENSP00000434702.1:p.Thr50Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS310623"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 781,
          "referenceAllele": "C",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000525036.1:n.781C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351113"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580113785",
      "coordinates": [
        {
          "allele": "T",
          "end": 785,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "NM_000321.2:c.619C>T",
        "LRG_517t1:c.619C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000312.2:p.Gln207Ter",
        "hgvsWellDefined": "NP_000312.2:p.Gln207_Lys928delinsMetGluAspAspLeuValIleSerPheGlnLeuMetLeuCysValLeuAspTyrPheIleLysLeuSerProProMetLeuLeuLysGluProTyrLysThrAlaValIleProIleAsnGlySerProArgThrProArgArgGlyGlnAsnArgSerAlaArgIleAlaLysGlnLeuGluAsnAspThrArgIleIleGluValLeuCysLysGluHisGluCysAsnIleAspGluValLysAsnValTyrPheLysAsnPheIleProPheMetAsnSerLeuGlyLeuValThrSerAsnGlyLeuProGluValGluAsnLeuSerLysArgTyrGluGluIleTyrLeuLysAsnLysAspLeuAspAlaArgLeuPheLeuAspHisAspLysThrLeuGlnThrAspSerIleAspSerPheGluThrGlnArgThrProArgLysSerAsnLeuAspGluGluValAsnValIleProProHisThrProValArgThrValMetAsnThrIleGlnGlnLeuMetMetIleLeuAsnSerAlaSerAspGlnProSerGluAsnLeuIleSerTyrPheAsnAsnCysThrValAsnProLysGluSerIleLeuLysArgValLysAspIleGlyTyrIlePheLysGluLysPheAlaLysAlaValGlyGlnGlyCysValGluIleGlySerGlnArgTyrLysLeuGlyValArgLeuTyrTyrArgValMetGluSerMetLeuLysSerGluGluGluArgLeuSerIleGlnAsnPheSerLysLeuLeuAsnAspAsnIlePheHisMetSerLeuLeuAlaCysAlaLeuGluValValMetAlaThrTyrSerArgSerThrSerGlnAsnLeuAspSerGlyThrAspLeuSerPheProTrpIleLeuAsnValLeuAsnLeuLysAlaPheAspPheTyrLysValIleGluSerPheIleLysAlaGluGlyAsnLeuThrArgGluMetIleLysHisLeuGluArgCysGluHisArgIleMetGluSerLeuAlaTrpLeuSerAspSerProLeuPheAspLeuIleLysGlnSerLysAspArgGluGlyProThrAspHisLeuGluSerAlaCysProLeuAsnLeuProLeuGlnAsnAsnHisThrAlaAlaAspMetTyrLeuSerProValArgSerProLysLysLysGlySerThrThrArgValAsnSerThrAlaAsnAlaGluThrGlnAlaThrSerAlaPheGlnThrGlnLysProLeuLysSerThrSerLeuSerLeuPheTyrLysLysValTyrArgLeuAlaTyrLeuArgLeuAsnThrLeuCysGluArgLeuLeuSerGluHisProGluLeuGluHisIleIleTrpThrLeuPheGlnHisThrLeuGlnAsnGluTyrGluLeuMetArgAspArgHisLeuAspGlnIleMetMetCysSerMetTyrGlyIleCysLysValLysAsnIleAspLeuLysPheLysIleIleValThrAlaTyrLysAspLeuProHisAlaValGlnGluThrPheLysArgValLeuIleLysGluGluGluTyrAspSerIleIleValPheTyrAsnSerValPheMetGlnArgLeuLysThrAsnIleLeuGlnTyrAlaSerThrArgProProThrLeuSerProIleProHisIleProArgSerProTyrLysPheProSerSerProLeuArgIleProGlyGlyAsnIleTyrIleSerProLeuLysSerProTyrLysIleSerGluGlyLeuProThrProThrLysMetThrProArgSerArgIleLeuValSerIleGlyGluSerPheGlyThrSerGluLysPheGlnLysIleAsnGlnMetValCysAsnSerAspArgValLeuLysArgSerAlaGluGlySerAsnProProLysProLeuLysLysLeuArgPheAspIleGluGlySerAspGluAlaAspGlySerLysHisLeuProGlyGluSerLysPheGlnGlnLysLeuAlaGluMetThrSerThrArgThrArgMetGlnLysGlnLysMetAsnAspSerMetAspThrSerAsnLysGluGluLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 373,
          "referenceAllele": "C",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "XM_011535171.1:c.358C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533473.1:p.Gln120Ter",
        "hgvsWellDefined": "XP_011533473.1:p.Gln120_Lys841delinsMetGluAspAspLeuValIleSerPheGlnLeuMetLeuCysValLeuAspTyrPheIleLysLeuSerProProMetLeuLeuLysGluProTyrLysThrAlaValIleProIleAsnGlySerProArgThrProArgArgGlyGlnAsnArgSerAlaArgIleAlaLysGlnLeuGluAsnAspThrArgIleIleGluValLeuCysLysGluHisGluCysAsnIleAspGluValLysAsnValTyrPheLysAsnPheIleProPheMetAsnSerLeuGlyLeuValThrSerAsnGlyLeuProGluValGluAsnLeuSerLysArgTyrGluGluIleTyrLeuLysAsnLysAspLeuAspAlaArgLeuPheLeuAspHisAspLysThrLeuGlnThrAspSerIleAspSerPheGluThrGlnArgThrProArgLysSerAsnLeuAspGluGluValAsnValIleProProHisThrProValArgThrValMetAsnThrIleGlnGlnLeuMetMetIleLeuAsnSerAlaSerAspGlnProSerGluAsnLeuIleSerTyrPheAsnAsnCysThrValAsnProLysGluSerIleLeuLysArgValLysAspIleGlyTyrIlePheLysGluLysPheAlaLysAlaValGlyGlnGlyCysValGluIleGlySerGlnArgTyrLysLeuGlyValArgLeuTyrTyrArgValMetGluSerMetLeuLysSerGluGluGluArgLeuSerIleGlnAsnPheSerLysLeuLeuAsnAspAsnIlePheHisMetSerLeuLeuAlaCysAlaLeuGluValValMetAlaThrTyrSerArgSerThrSerGlnAsnLeuAspSerGlyThrAspLeuSerPheProTrpIleLeuAsnValLeuAsnLeuLysAlaPheAspPheTyrLysValIleGluSerPheIleLysAlaGluGlyAsnLeuThrArgGluMetIleLysHisLeuGluArgCysGluHisArgIleMetGluSerLeuAlaTrpLeuSerAspSerProLeuPheAspLeuIleLysGlnSerLysAspArgGluGlyProThrAspHisLeuGluSerAlaCysProLeuAsnLeuProLeuGlnAsnAsnHisThrAlaAlaAspMetTyrLeuSerProValArgSerProLysLysLysGlySerThrThrArgValAsnSerThrAlaAsnAlaGluThrGlnAlaThrSerAlaPheGlnThrGlnLysProLeuLysSerThrSerLeuSerLeuPheTyrLysLysValTyrArgLeuAlaTyrLeuArgLeuAsnThrLeuCysGluArgLeuLeuSerGluHisProGluLeuGluHisIleIleTrpThrLeuPheGlnHisThrLeuGlnAsnGluTyrGluLeuMetArgAspArgHisLeuAspGlnIleMetMetCysSerMetTyrGlyIleCysLysValLysAsnIleAspLeuLysPheLysIleIleValThrAlaTyrLysAspLeuProHisAlaValGlnGluThrPheLysArgValLeuIleLysGluGluGluTyrAspSerIleIleValPheTyrAsnSerValPheMetGlnArgLeuLysThrAsnIleLeuGlnTyrAlaSerThrArgProProThrLeuSerProIleProHisIleProArgSerProTyrLysPheProSerSerProLeuArgIleProGlyGlyAsnIleTyrIleSerProLeuLysSerProTyrLysIleSerGluGlyLeuProThrProThrLysMetThrProArgSerArgIleLeuValSerIleGlyGluSerPheGlyThrSerGluLysPheGlnLysIleAsnGlnMetValCysAsnSerAspArgValLeuLysArgSerAlaGluGlySerAsnProProLysProLeuLysLysLeuArgPheAspIleGluGlySerAspGluAlaAspGlySerLysHisLeuProGlyGluSerLysPheGlnGlnLysLeuAlaGluMetThrSerThrArgThrArgMetGlnLysGlnLysMetAsnAspSerMetAspThrSerAsnLysGluGluLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102180"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 374,
          "referenceAllele": "C",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "XM_011535171.2:c.358C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533473.1:p.Gln120Ter",
        "hgvsWellDefined": "XP_011533473.1:p.Gln120_Lys841delinsMetGluAspAspLeuValIleSerPheGlnLeuMetLeuCysValLeuAspTyrPheIleLysLeuSerProProMetLeuLeuLysGluProTyrLysThrAlaValIleProIleAsnGlySerProArgThrProArgArgGlyGlnAsnArgSerAlaArgIleAlaLysGlnLeuGluAsnAspThrArgIleIleGluValLeuCysLysGluHisGluCysAsnIleAspGluValLysAsnValTyrPheLysAsnPheIleProPheMetAsnSerLeuGlyLeuValThrSerAsnGlyLeuProGluValGluAsnLeuSerLysArgTyrGluGluIleTyrLeuLysAsnLysAspLeuAspAlaArgLeuPheLeuAspHisAspLysThrLeuGlnThrAspSerIleAspSerPheGluThrGlnArgThrProArgLysSerAsnLeuAspGluGluValAsnValIleProProHisThrProValArgThrValMetAsnThrIleGlnGlnLeuMetMetIleLeuAsnSerAlaSerAspGlnProSerGluAsnLeuIleSerTyrPheAsnAsnCysThrValAsnProLysGluSerIleLeuLysArgValLysAspIleGlyTyrIlePheLysGluLysPheAlaLysAlaValGlyGlnGlyCysValGluIleGlySerGlnArgTyrLysLeuGlyValArgLeuTyrTyrArgValMetGluSerMetLeuLysSerGluGluGluArgLeuSerIleGlnAsnPheSerLysLeuLeuAsnAspAsnIlePheHisMetSerLeuLeuAlaCysAlaLeuGluValValMetAlaThrTyrSerArgSerThrSerGlnAsnLeuAspSerGlyThrAspLeuSerPheProTrpIleLeuAsnValLeuAsnLeuLysAlaPheAspPheTyrLysValIleGluSerPheIleLysAlaGluGlyAsnLeuThrArgGluMetIleLysHisLeuGluArgCysGluHisArgIleMetGluSerLeuAlaTrpLeuSerAspSerProLeuPheAspLeuIleLysGlnSerLysAspArgGluGlyProThrAspHisLeuGluSerAlaCysProLeuAsnLeuProLeuGlnAsnAsnHisThrAlaAlaAspMetTyrLeuSerProValArgSerProLysLysLysGlySerThrThrArgValAsnSerThrAlaAsnAlaGluThrGlnAlaThrSerAlaPheGlnThrGlnLysProLeuLysSerThrSerLeuSerLeuPheTyrLysLysValTyrArgLeuAlaTyrLeuArgLeuAsnThrLeuCysGluArgLeuLeuSerGluHisProGluLeuGluHisIleIleTrpThrLeuPheGlnHisThrLeuGlnAsnGluTyrGluLeuMetArgAspArgHisLeuAspGlnIleMetMetCysSerMetTyrGlyIleCysLysValLysAsnIleAspLeuLysPheLysIleIleValThrAlaTyrLysAspLeuProHisAlaValGlnGluThrPheLysArgValLeuIleLysGluGluGluTyrAspSerIleIleValPheTyrAsnSerValPheMetGlnArgLeuLysThrAsnIleLeuGlnTyrAlaSerThrArgProProThrLeuSerProIleProHisIleProArgSerProTyrLysPheProSerSerProLeuArgIleProGlyGlyAsnIleTyrIleSerProLeuLysSerProTyrLysIleSerGluGlyLeuProThrProThrLysMetThrProArgSerArgIleLeuValSerIleGlyGluSerPheGlyThrSerGluLysPheGlnLysIleAsnGlnMetValCysAsnSerAspArgValLeuLysArgSerAlaGluGlySerAsnProProLysProLeuLysLysLeuArgPheAspIleGluGlySerAspGluAlaAspGlySerLysHisLeuProGlyGluSerLysPheGlnGlnLysLeuAlaGluMetThrSerThrArgThrArgMetGlnLysGlnLysMetAsnAspSerMetAspThrSerAsnLysGluGluLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551929"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580113785",
      "coordinates": [
        {
          "allele": "T",
          "end": 781,
          "referenceAllele": "C",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "NM_000321.3:c.619C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000312.2:p.Gln207Ter",
        "hgvsWellDefined": "NP_000312.2:p.Gln207_Lys928delinsMetGluAspAspLeuValIleSerPheGlnLeuMetLeuCysValLeuAspTyrPheIleLysLeuSerProProMetLeuLeuLysGluProTyrLysThrAlaValIleProIleAsnGlySerProArgThrProArgArgGlyGlnAsnArgSerAlaArgIleAlaLysGlnLeuGluAsnAspThrArgIleIleGluValLeuCysLysGluHisGluCysAsnIleAspGluValLysAsnValTyrPheLysAsnPheIleProPheMetAsnSerLeuGlyLeuValThrSerAsnGlyLeuProGluValGluAsnLeuSerLysArgTyrGluGluIleTyrLeuLysAsnLysAspLeuAspAlaArgLeuPheLeuAspHisAspLysThrLeuGlnThrAspSerIleAspSerPheGluThrGlnArgThrProArgLysSerAsnLeuAspGluGluValAsnValIleProProHisThrProValArgThrValMetAsnThrIleGlnGlnLeuMetMetIleLeuAsnSerAlaSerAspGlnProSerGluAsnLeuIleSerTyrPheAsnAsnCysThrValAsnProLysGluSerIleLeuLysArgValLysAspIleGlyTyrIlePheLysGluLysPheAlaLysAlaValGlyGlnGlyCysValGluIleGlySerGlnArgTyrLysLeuGlyValArgLeuTyrTyrArgValMetGluSerMetLeuLysSerGluGluGluArgLeuSerIleGlnAsnPheSerLysLeuLeuAsnAspAsnIlePheHisMetSerLeuLeuAlaCysAlaLeuGluValValMetAlaThrTyrSerArgSerThrSerGlnAsnLeuAspSerGlyThrAspLeuSerPheProTrpIleLeuAsnValLeuAsnLeuLysAlaPheAspPheTyrLysValIleGluSerPheIleLysAlaGluGlyAsnLeuThrArgGluMetIleLysHisLeuGluArgCysGluHisArgIleMetGluSerLeuAlaTrpLeuSerAspSerProLeuPheAspLeuIleLysGlnSerLysAspArgGluGlyProThrAspHisLeuGluSerAlaCysProLeuAsnLeuProLeuGlnAsnAsnHisThrAlaAlaAspMetTyrLeuSerProValArgSerProLysLysLysGlySerThrThrArgValAsnSerThrAlaAsnAlaGluThrGlnAlaThrSerAlaPheGlnThrGlnLysProLeuLysSerThrSerLeuSerLeuPheTyrLysLysValTyrArgLeuAlaTyrLeuArgLeuAsnThrLeuCysGluArgLeuLeuSerGluHisProGluLeuGluHisIleIleTrpThrLeuPheGlnHisThrLeuGlnAsnGluTyrGluLeuMetArgAspArgHisLeuAspGlnIleMetMetCysSerMetTyrGlyIleCysLysValLysAsnIleAspLeuLysPheLysIleIleValThrAlaTyrLysAspLeuProHisAlaValGlnGluThrPheLysArgValLeuIleLysGluGluGluTyrAspSerIleIleValPheTyrAsnSerValPheMetGlnArgLeuLysThrAsnIleLeuGlnTyrAlaSerThrArgProProThrLeuSerProIleProHisIleProArgSerProTyrLysPheProSerSerProLeuArgIleProGlyGlyAsnIleTyrIleSerProLeuLysSerProTyrLysIleSerGluGlyLeuProThrProThrLysMetThrProArgSerArgIleLeuValSerIleGlyGluSerPheGlyThrSerGluLysPheGlnLysIleAsnGlnMetValCysAsnSerAspArgValLeuLysArgSerAlaGluGlySerAsnProProLysProLeuLysLysLeuArgPheAspIleGluGlySerAspGluAlaAspGlySerLysHisLeuProGlyGluSerLysPheGlnGlnLysLeuAlaGluMetThrSerThrArgThrArgMetGlnLysGlnLysMetAsnAspSerMetAspThrSerAsnLysGluGluLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710824",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267163.6:c.619C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000321.3:c.619C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267163.4:p.Gln207Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000312.2:p.Gln207Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}