{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915962733",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 2787,
          "referenceAllele": "T",
          "start": 2786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NP_001036188.1:p.Thr2787Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA024914",
          "hgvs": "NM_001042723.2:c.8360C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA405677589",
          "hgvs": "NM_001042723.2:c.8359A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150282"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=38459[alleleid]",
        "alleleId": 38459,
        "preferredName": "NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/133223",
        "RCV": [
          "RCV000119746",
          "RCV000147446",
          "RCV000202878",
          "RCV000335435",
          "RCV000392959",
          "RCV000209984",
          "RCV001079361",
          "RCV000403812",
          "RCV001802881",
          "RCV002498553"
        ],
        "variationId": 133223
      }
    ]
  },
  "type": "amino-acid"
}