{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA231818",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 427,
          "referenceAllele": "S",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NP_000531.2:p.Ser427Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA024005",
          "hgvs": "NM_000540.3:c.1280C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147075"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76900[alleleid]",
        "alleleId": 76900,
        "preferredName": "NM_000540.3(RYR1):c.1280C>T (p.Ser427Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/65992",
        "RCV": [
          "RCV000056239",
          "RCV000119465",
          "RCV003996490"
        ],
        "variationId": 65992
      }
    ]
  },
  "type": "amino-acid"
}