{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825121823",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 347,
          "referenceAllele": "S",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "NP_000312.2:p.Ser347Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA388160933",
          "hgvs": "NM_000321.3:c.1039T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146867"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3230580[alleleid]",
        "alleleId": 3230580,
        "preferredName": "NM_000321.3(RB1):c.1039T>C (p.Ser347Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3070823",
        "RCV": [
          "RCV004013333"
        ],
        "variationId": 3070823
      }
    ]
  },
  "type": "amino-acid"
}