{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA105379",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2458,
          "referenceAllele": "R",
          "start": 2457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NP_000531.2:p.Arg2458Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA024784",
          "hgvs": "NM_000540.3:c.7372C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147075"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28010[alleleid]",
        "alleleId": 28010,
        "preferredName": "NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12971",
        "RCV": [
          "RCV000013838",
          "RCV000119711",
          "RCV000614410",
          "RCV000796565",
          "RCV001787731",
          "RCV001787726",
          "RCV001787727",
          "RCV001787728",
          "RCV001787729",
          "RCV001787730",
          "RCV001787732",
          "RCV002490361"
        ],
        "variationId": 12971
      }
    ]
  },
  "type": "amino-acid"
}