{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580129927",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 4709,
          "referenceAllele": "T",
          "start": 4708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NP_000531.2:p.Thr4709Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA405682643",
          "hgvs": "NM_000540.3:c.14126C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147075"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2187875[alleleid]",
        "alleleId": 2187875,
        "preferredName": "NM_000540.3(RYR1):c.14126C>G (p.Thr4709Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2132034",
        "RCV": [
          "RCV003036541"
        ],
        "variationId": 2132034
      }
    ]
  },
  "type": "amino-acid"
}