{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658680049",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 2233,
          "referenceAllele": "R",
          "start": 2232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010485",
      "geneNCBI_id": 6263,
      "geneSymbol": "RYR3",
      "hgvs": [
        "NP_001027.3:p.Arg2233Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7459649",
          "hgvs": "NM_001036.6:c.6698G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149516"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=464047[alleleid]",
        "alleleId": 464047,
        "preferredName": "NM_001036.6(RYR3):c.6698G>A (p.Arg2233Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/461938",
        "RCV": [
          "RCV000526774",
          "RCV002060306"
        ],
        "variationId": 461938
      }
    ]
  },
  "type": "amino-acid"
}