{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA036169",
  "communityStandardTitle": [
    "NM_000321.3(RB1):c.2566G>A (p.Asp856Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=399557[alleleid]",
        "alleleId": 399557,
        "preferredName": "NM_000321.3(RB1):c.2566G>A (p.Asp856Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/416490",
        "RCV": [
          "RCV000467622",
          "RCV000492588",
          "RCV000761059",
          "RCV001555707",
          "RCV001821379",
          "RCV003925378"
        ],
        "variationId": 416490
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-49050882-G-A",
        "id": "13-49050882-G-A",
        "variant": "13:49050882 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.49050882G>A?assembly=hg19",
        "id": "chr13:g.49050882G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.48476746G>A?assembly=hg38",
        "id": "chr13:g.48476746G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/149359120",
        "rs": 149359120
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-49050882-G-A?dataset=gnomad_r2_1",
        "id": "13-49050882-G-A",
        "variant": "13:49050882 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-48476746-G-A?dataset=gnomad_r3",
        "id": "13-48476746-G-A",
        "variant": "13:48476746 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-48476746-G-A?dataset=gnomad_r4",
        "id": "13-48476746-G-A",
        "variant": "13:48476746 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 48476746,
          "referenceAllele": "G",
          "start": 48476745
        }
      ],
      "hgvs": [
        "NC_000013.11:g.48476746G>A",
        "CM000675.2:g.48476746G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 49050882,
          "referenceAllele": "G",
          "start": 49050881
        }
      ],
      "hgvs": [
        "NC_000013.10:g.49050882G>A",
        "CM000675.1:g.49050882G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 47948883,
          "referenceAllele": "G",
          "start": 47948882
        }
      ],
      "hgvs": [
        "NC_000013.9:g.47948883G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 178000,
          "referenceAllele": "G",
          "start": 177999
        }
      ],
      "hgvs": [
        "NG_009009.1:g.178000G>A",
        "LRG_517:g.178000G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001377"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2728,
          "referenceAllele": "G",
          "start": 2727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000267163.6:c.2566G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267163.4:p.Asp856Asn",
        "hgvsWellDefined": "ENSP00000267163.4:p.Asp856Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742979",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267163.6:c.2566G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000321.3:c.2566G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267163.4:p.Asp856Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000312.2:p.Asp856Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 194,
          "endIntronDirection": "+",
          "endIntronOffset": 95303,
          "referenceAllele": "G",
          "start": 194,
          "startIntronDirection": "+",
          "startIntronOffset": 95302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000643064.1:c.194+95303G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767072"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2732,
          "referenceAllele": "G",
          "start": 2731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000650461.1:c.2566G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497193.1:p.Asp856Asn",
        "hgvsWellDefined": "ENSP00000497193.1:p.Asp856Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771130"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2704,
          "referenceAllele": "G",
          "start": 2703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000267163.4:c.2566G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267163.4:p.Asp856Asn",
        "hgvsWellDefined": "ENSP00000267163.4:p.Asp856Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247284"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 300,
          "referenceAllele": "G",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000484879.1:n.300G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 169,
          "referenceAllele": "G",
          "start": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "ENST00000531171.5:n.169G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS356309"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645413816",
      "coordinates": [
        {
          "allele": "A",
          "end": 2732,
          "referenceAllele": "G",
          "start": 2731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "NM_000321.2:c.2566G>A",
        "LRG_517t1:c.2566G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000312.2:p.Asp856Asn",
        "hgvsWellDefined": "NP_000312.2:p.Asp856Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2320,
          "referenceAllele": "G",
          "start": 2319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "XM_011535171.1:c.2305G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533473.1:p.Asp769Asn",
        "hgvsWellDefined": "XP_011533473.1:p.Asp769Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102180"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2321,
          "referenceAllele": "G",
          "start": 2320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "XM_011535171.2:c.2305G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533473.1:p.Asp769Asn",
        "hgvsWellDefined": "XP_011533473.1:p.Asp769Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551929"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645413816",
      "coordinates": [
        {
          "allele": "A",
          "end": 2728,
          "referenceAllele": "G",
          "start": 2727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "NM_000321.3:c.2566G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000312.2:p.Asp856Asn",
        "hgvsWellDefined": "NP_000312.2:p.Asp856Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710824",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267163.6:c.2566G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000321.3:c.2566G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267163.4:p.Asp856Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000312.2:p.Asp856Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}