{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA252495",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1562,
          "referenceAllele": "Q",
          "start": 1561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009834",
      "geneNCBI_id": 10743,
      "geneSymbol": "RAI1",
      "hgvs": [
        "NP_109590.3:p.Gln1562Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA252494",
          "hgvs": "NM_030665.4:c.4685A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178905"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17989[alleleid]",
        "alleleId": 17989,
        "preferredName": "NM_030665.4(RAI1):c.4685A>G (p.Gln1562Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2950",
        "RCV": [
          "RCV000003084"
        ],
        "variationId": 2950
      }
    ]
  },
  "type": "amino-acid"
}