{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915966082",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 2267,
          "referenceAllele": "R",
          "start": 2266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NP_001026.2:p.Arg2267His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA087228",
          "hgvs": "NM_001035.3:c.6800G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149448"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=627571[alleleid]",
        "alleleId": 627571,
        "preferredName": "NM_001035.3(RYR2):c.6800G>A (p.Arg2267His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/642589",
        "RCV": [
          "RCV001184874",
          "RCV002534594",
          "RCV001816852",
          "RCV004027553",
          "RCV004001598"
        ],
        "variationId": 642589
      }
    ]
  },
  "type": "amino-acid"
}