{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825122469",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 672,
          "referenceAllele": "E",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009884",
      "geneNCBI_id": 5925,
      "geneSymbol": "RB1",
      "hgvs": [
        "NP_000312.2:p.Glu672Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA388166768",
          "hgvs": "NM_000321.3:c.2016G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA388166769",
          "hgvs": "NM_000321.3:c.2016G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146867"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2275516[alleleid]",
        "alleleId": 2275516,
        "preferredName": "NM_000321.3(RB1):c.2016G>C (p.Glu672Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2287869",
        "RCV": [
          "RCV004009548",
          "RCV004137165"
        ],
        "variationId": 2287869
      }
    ]
  },
  "type": "amino-acid"
}