{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA122818",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 462,
          "referenceAllele": "R",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010050",
      "geneNCBI_id": 6041,
      "geneSymbol": "RNASEL",
      "hgvs": [
        "NP_066956.1:p.Arg462Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA122817",
          "hgvs": "NM_021133.4:c.1385G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177379"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28045[alleleid]",
        "alleleId": 28045,
        "preferredName": "NM_021133.4(RNASEL):c.1385G>A (p.Arg462Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13006",
        "RCV": [
          "RCV000013880",
          "RCV002279713",
          "RCV003492293"
        ],
        "variationId": 13006
      }
    ]
  },
  "type": "amino-acid"
}