{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA105689",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 614,
          "referenceAllele": "R",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NP_000531.2:p.Arg614Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA024311",
          "hgvs": "NM_000540.3:c.1840C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147075"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28003[alleleid]",
        "alleleId": 28003,
        "preferredName": "NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12964",
        "RCV": [
          "RCV000013830",
          "RCV000119586",
          "RCV000538121",
          "RCV000624176",
          "RCV000608635",
          "RCV001787389",
          "RCV001787394",
          "RCV001787390",
          "RCV001787391",
          "RCV001787392",
          "RCV001787393",
          "RCV001787388",
          "RCV002496349"
        ],
        "variationId": 12964
      }
    ]
  },
  "type": "amino-acid"
}