{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA035683",
  "communityStandardTitle": [
    "NM_000321.3(RB1):c.2464C>G (p.Pro822Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=688176[alleleid]",
        "alleleId": 688176,
        "preferredName": "NM_000321.3(RB1):c.2464C>G (p.Pro822Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/700229",
        "RCV": [
          "RCV000868331",
          "RCV001015621",
          "RCV003228999"
        ],
        "variationId": 700229
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-49039479-C-G",
        "id": "13-49039479-C-G",
        "variant": "13:49039479 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.49039479C>G?assembly=hg19",
        "id": "chr13:g.49039479C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.48465343C>G?assembly=hg38",
        "id": "chr13:g.48465343C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/368413787",
        "rs": 368413787
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-49039479-C-G?dataset=gnomad_r2_1",
        "id": "13-49039479-C-G",
        "variant": "13:49039479 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-48465343-C-G?dataset=gnomad_r3",
        "id": "13-48465343-C-G",
        "variant": "13:48465343 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-48465343-C-G?dataset=gnomad_r4",
        "id": "13-48465343-C-G",
        "variant": "13:48465343 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 48465343,
          "referenceAllele": "C",
          "start": 48465342
        }
      ],
      "hgvs": [
        "NC_000013.11:g.48465343C>G",
        "CM000675.2:g.48465343C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 49039479,
          "referenceAllele": "C",
          "start": 49039478
        }
      ],
      "hgvs": [
        "NC_000013.10:g.49039479C>G",
        "CM000675.1:g.49039479C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 47937480,
          "referenceAllele": "C",
          "start": 47937479
        }
      ],
      "hgvs": [
        "NC_000013.9:g.47937480C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 166597,
          "referenceAllele": "C",
          "start": 166596
        }
      ],
      "hgvs": [
        "NG_009009.1:g.166597C>G",
        "LRG_517:g.166597C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001377"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2626,
          "referenceAllele": "C",
          "start": 2625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000267163.6:c.2464C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267163.4:p.Pro822Ala",
        "hgvsWellDefined": "ENSP00000267163.4:p.Pro822Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742979",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267163.6:c.2464C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000321.3:c.2464C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267163.4:p.Pro822Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000312.2:p.Pro822Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 194,
          "endIntronDirection": "+",
          "endIntronOffset": 83900,
          "referenceAllele": "C",
          "start": 194,
          "startIntronDirection": "+",
          "startIntronOffset": 83899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000643064.1:c.194+83900C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767072"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2630,
          "referenceAllele": "C",
          "start": 2629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000650461.1:c.2464C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497193.1:p.Pro822Ala",
        "hgvsWellDefined": "ENSP00000497193.1:p.Pro822Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2602,
          "referenceAllele": "C",
          "start": 2601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000267163.4:c.2464C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267163.4:p.Pro822Ala",
        "hgvsWellDefined": "ENSP00000267163.4:p.Pro822Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247284"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915960249",
      "coordinates": [
        {
          "allele": "G",
          "end": 2630,
          "referenceAllele": "C",
          "start": 2629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "NM_000321.2:c.2464C>G",
        "LRG_517t1:c.2464C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000312.2:p.Pro822Ala",
        "hgvsWellDefined": "NP_000312.2:p.Pro822Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006385"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2218,
          "referenceAllele": "C",
          "start": 2217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "XM_011535171.1:c.2203C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533473.1:p.Pro735Ala",
        "hgvsWellDefined": "XP_011533473.1:p.Pro735Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102180"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2219,
          "referenceAllele": "C",
          "start": 2218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "XM_011535171.2:c.2203C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533473.1:p.Pro735Ala",
        "hgvsWellDefined": "XP_011533473.1:p.Pro735Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551929"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915960249",
      "coordinates": [
        {
          "allele": "G",
          "end": 2626,
          "referenceAllele": "C",
          "start": 2625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "NM_000321.3:c.2464C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000312.2:p.Pro822Ala",
        "hgvsWellDefined": "NP_000312.2:p.Pro822Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710824",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267163.6:c.2464C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000321.3:c.2464C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267163.4:p.Pro822Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000312.2:p.Pro822Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}