{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830248937",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 411,
          "referenceAllele": "P",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NP_612114.2:p.Pro411Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10458214",
          "hgvs": "NM_138270.5:c.1232C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181127"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=581150[alleleid]",
        "alleleId": 581150,
        "preferredName": "NM_000489.6(ATRX):c.1346C>G (p.Pro449Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/588491",
        "RCV": [
          "RCV001830590",
          "RCV002314580"
        ],
        "variationId": 588491
      }
    ]
  },
  "type": "amino-acid"
}