{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915962453",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 2163,
          "referenceAllele": "R",
          "start": 2162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NP_001036188.1:p.Arg2163His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA024593",
          "hgvs": "NM_001042723.2:c.6488G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150282"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28013[alleleid]",
        "alleleId": 28013,
        "preferredName": "NM_000540.3(RYR1):c.6488G>A (p.Arg2163His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12974",
        "RCV": [
          "RCV000013841",
          "RCV000013842",
          "RCV000119654",
          "RCV001204982",
          "RCV001787751",
          "RCV001787752",
          "RCV001787753",
          "RCV001787747",
          "RCV001787749",
          "RCV001787748",
          "RCV001787750"
        ],
        "variationId": 12974
      }
    ]
  },
  "type": "amino-acid"
}