{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10634444",
  "communityStandardTitle": [
    "NM_000321.3(RB1):c.616T>C (p.Leu206=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=319913[alleleid]",
        "alleleId": 319913,
        "preferredName": "NM_000321.3(RB1):c.616T>C (p.Leu206=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/312285",
        "RCV": [
          "RCV000269222",
          "RCV002356422"
        ],
        "variationId": 312285
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.48934161T>C?assembly=hg19",
        "id": "chr13:g.48934161T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.48360025T>C?assembly=hg38",
        "id": "chr13:g.48360025T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886050270",
        "rs": 886050270
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-48360025-T-C?dataset=gnomad_r4",
        "id": "13-48360025-T-C",
        "variant": "13:48360025 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 48360025,
          "referenceAllele": "T",
          "start": 48360024
        }
      ],
      "hgvs": [
        "NC_000013.11:g.48360025T>C",
        "CM000675.2:g.48360025T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 48934161,
          "referenceAllele": "T",
          "start": 48934160
        }
      ],
      "hgvs": [
        "NC_000013.10:g.48934161T>C",
        "CM000675.1:g.48934161T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 47832162,
          "referenceAllele": "T",
          "start": 47832161
        }
      ],
      "hgvs": [
        "NC_000013.9:g.47832162T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 61279,
          "referenceAllele": "T",
          "start": 61278
        }
      ],
      "hgvs": [
        "NG_009009.1:g.61279T>C",
        "LRG_517:g.61279T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001377"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 778,
          "referenceAllele": "T",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000267163.6:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267163.4:p.Leu206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742979",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267163.6:c.616T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000321.3:c.616T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267163.4:p.Leu206="
          },
          "RefSeq": {
            "hgvs": "NP_000312.2:p.Leu206="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 782,
          "referenceAllele": "T",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000650461.1:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497193.1:p.Leu206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771130"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 754,
          "referenceAllele": "T",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000267163.4:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267163.4:p.Leu206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247284"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 284,
          "referenceAllele": "T",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000467505.5:c.146T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434702.1:p.Ile49Thr",
        "hgvsWellDefined": "ENSP00000434702.1:p.Ile49Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS310623"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 778,
          "referenceAllele": "T",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000525036.1:n.778T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351113"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825121502",
      "coordinates": [
        {
          "allele": "C",
          "end": 782,
          "referenceAllele": "T",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "NM_000321.2:c.616T>C",
        "LRG_517t1:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000312.2:p.Leu206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006385"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 370,
          "referenceAllele": "T",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "XM_011535171.1:c.355T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533473.1:p.Leu119="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102180"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 371,
          "referenceAllele": "T",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "XM_011535171.2:c.355T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533473.1:p.Leu119="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551929"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825121502",
      "coordinates": [
        {
          "allele": "C",
          "end": 778,
          "referenceAllele": "T",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "NM_000321.3:c.616T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000312.2:p.Leu206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710824",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267163.6:c.616T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000321.3:c.616T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267163.4:p.Leu206="
          },
          "RefSeq": {
            "hgvs": "NP_000312.2:p.Leu206="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}