{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA235786",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 3349,
          "referenceAllele": "S",
          "start": 3348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NP_001026.2:p.Ser3349Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA006517",
          "hgvs": "NM_001035.3:c.10046C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149448"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=188805[alleleid]",
        "alleleId": 188805,
        "preferredName": "NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/190999",
        "RCV": [
          "RCV000171173",
          "RCV000208443",
          "RCV000611661",
          "RCV002399612",
          "RCV002470784"
        ],
        "variationId": 190999
      }
    ]
  },
  "type": "amino-acid"
}