{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA026419",
  "communityStandardTitle": [
    "NM_000321.3(RB1):c.2067_2079delinsCAC (p.Gln689HisfsTer4)"
  ],
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=98748[alleleid]",
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        "preferredName": "NM_000321.3(RB1):c.2067_2079delinsCAC (p.Gln689fs)"
      }
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/92841",
        "RCV": [
          "RCV000176032"
        ],
        "variationId": 92841
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.49033930_49033942delinsCAC?assembly=hg19",
        "id": "chr13:g.49033930_49033942delinsCAC"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.48459794_48459806delinsCAC?assembly=hg38",
        "id": "chr13:g.48459794_48459806delinsCAC"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/398123333",
        "rs": 398123333
      }
    ]
  },
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    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "CAC",
          "end": 48459806,
          "referenceAllele": "GAATGAGTATGAA",
          "start": 48459793
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "CAC",
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          "referenceAllele": "GAATGAGTATGAA",
          "start": 49033929
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      ],
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
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          "end": 47931943,
          "referenceAllele": "GAATGAGTATGAA",
          "start": 47931930
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      "referenceGenome": "NCBI36",
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    },
    {
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    }
  ],
  "transcriptAlleles": [
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      "geneSymbol": "RB1",
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      },
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        "maneStatus": "MANE Select",
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        },
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    {
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          "startIntronDirection": "+",
          "startIntronOffset": 78350
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      "referenceSequence": "http://reg.genome.network/refseq/RS767072"
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    {
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          "allele": "CAC",
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      "geneSymbol": "RB1",
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS771130"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS247284"
    },
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      "geneSymbol": "RB1",
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        "hgvsWellDefined": "NP_000312.2:p.[Gln689_Arg698del;Leu700_Cys706delinsThr;Met708_Ile723del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006385"
    },
    {
      "coordinates": [
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          "allele": "CAC",
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          "referenceAllele": "GAATGAGTATGAA",
          "start": 1820
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      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "XM_011535171.1:c.1806_1818delinsCAC"
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      "proteinEffect": {
        "hgvs": "XP_011533473.1:p.Gln602HisfsTer4",
        "hgvsWellDefined": "XP_011533473.1:p.[Gln602_Arg611del;Leu613_Cys619delinsThr;Met621_Ile636del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102180"
    },
    {
      "coordinates": [
        {
          "allele": "CAC",
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      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "XM_011535171.2:c.1806_1818delinsCAC"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011533473.1:p.[Gln602_Arg611del;Leu613_Cys619delinsThr;Met621_Ile636del]"
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      "referenceSequence": "http://reg.genome.network/refseq/RS551929"
    },
    {
      "coordinates": [
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      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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  "type": "nucleotide"
}