{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA026380",
  "communityStandardTitle": [
    "NM_000321.3(RB1):c.1573G>A (p.Ala525Thr)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3469151",
        "active": true,
        "id": "COSM3469151"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3469152",
        "active": true,
        "id": "COSM3469152"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=138858[alleleid]",
        "alleleId": 138858,
        "preferredName": "NM_000321.3(RB1):c.1573G>A (p.Ala525Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/135119",
        "RCV": [
          "RCV000121919",
          "RCV000701091",
          "RCV002399489",
          "RCV003153399"
        ],
        "variationId": 135119
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-48955457-G-A",
        "id": "13-48955457-G-A",
        "variant": "13:48955457 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.48955457G>A?assembly=hg19",
        "id": "chr13:g.48955457G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.48381321G>A?assembly=hg38",
        "id": "chr13:g.48381321G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587778640",
        "rs": 587778640
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-48955457-G-A?dataset=gnomad_r2_1",
        "id": "13-48955457-G-A",
        "variant": "13:48955457 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-48381321-G-A?dataset=gnomad_r3",
        "id": "13-48381321-G-A",
        "variant": "13:48381321 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-48381321-G-A?dataset=gnomad_r4",
        "id": "13-48381321-G-A",
        "variant": "13:48381321 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 48381321,
          "referenceAllele": "G",
          "start": 48381320
        }
      ],
      "hgvs": [
        "NC_000013.11:g.48381321G>A",
        "CM000675.2:g.48381321G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 48955457,
          "referenceAllele": "G",
          "start": 48955456
        }
      ],
      "hgvs": [
        "NC_000013.10:g.48955457G>A",
        "CM000675.1:g.48955457G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 47853458,
          "referenceAllele": "G",
          "start": 47853457
        }
      ],
      "hgvs": [
        "NC_000013.9:g.47853458G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 82575,
          "referenceAllele": "G",
          "start": 82574
        }
      ],
      "hgvs": [
        "NG_009009.1:g.82575G>A",
        "LRG_517:g.82575G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001377"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1735,
          "referenceAllele": "G",
          "start": 1734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000267163.6:c.1573G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267163.4:p.Ala525Thr",
        "hgvsWellDefined": "ENSP00000267163.4:p.Ala525Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742979",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267163.6:c.1573G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000321.3:c.1573G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267163.4:p.Ala525Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000312.2:p.Ala525Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 72,
          "referenceAllele": "G",
          "start": 71
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000643064.1:c.72G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767072"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1739,
          "referenceAllele": "G",
          "start": 1738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000650461.1:c.1573G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497193.1:p.Ala525Thr",
        "hgvsWellDefined": "ENSP00000497193.1:p.Ala525Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771130"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1711,
          "referenceAllele": "G",
          "start": 1710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000267163.4:c.1573G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267163.4:p.Ala525Thr",
        "hgvsWellDefined": "ENSP00000267163.4:p.Ala525Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247284"
    },
    {
      "@id": "http://reg.genome.network/allele/PA161794",
      "coordinates": [
        {
          "allele": "A",
          "end": 1739,
          "referenceAllele": "G",
          "start": 1738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "NM_000321.2:c.1573G>A",
        "LRG_517t1:c.1573G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000312.2:p.Ala525Thr",
        "hgvsWellDefined": "NP_000312.2:p.Ala525Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1327,
          "referenceAllele": "G",
          "start": 1326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "XM_011535171.1:c.1312G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533473.1:p.Ala438Thr",
        "hgvsWellDefined": "XP_011533473.1:p.Ala438Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102180"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1328,
          "referenceAllele": "G",
          "start": 1327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "XM_011535171.2:c.1312G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533473.1:p.Ala438Thr",
        "hgvsWellDefined": "XP_011533473.1:p.Ala438Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551929"
    },
    {
      "@id": "http://reg.genome.network/allele/PA161794",
      "coordinates": [
        {
          "allele": "A",
          "end": 1735,
          "referenceAllele": "G",
          "start": 1734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "NM_000321.3:c.1573G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000312.2:p.Ala525Thr",
        "hgvsWellDefined": "NP_000312.2:p.Ala525Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710824",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267163.6:c.1573G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000321.3:c.1573G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267163.4:p.Ala525Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000312.2:p.Ala525Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}