{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA105538",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 44,
          "referenceAllele": "R",
          "start": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NP_000531.2:p.Arg44Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA024034",
          "hgvs": "NM_000540.3:c.130C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147075"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=136793[alleleid]",
        "alleleId": 136793,
        "preferredName": "NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/133045",
        "RCV": [
          "RCV000119473",
          "RCV001238887",
          "RCV001588936",
          "RCV001787950",
          "RCV001787944",
          "RCV001787945",
          "RCV001787946",
          "RCV001787947",
          "RCV001787948",
          "RCV001787949",
          "RCV003338417"
        ],
        "variationId": 133045
      }
    ]
  },
  "type": "amino-acid"
}