{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580147012",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 2623,
          "referenceAllele": "L",
          "start": 2622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NP_001036188.1:p.Leu2623Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA405673763",
          "hgvs": "NM_001042723.2:c.7869G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA405673776",
          "hgvs": "NM_001042723.2:c.7869G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150282"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2410841[alleleid]",
        "alleleId": 2410841,
        "preferredName": "NM_000540.3(RYR1):c.7869G>C (p.Leu2623Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2435592",
        "RCV": [
          "RCV003130463"
        ],
        "variationId": 2435592
      }
    ]
  },
  "type": "amino-acid"
}