{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA306838",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1051,
          "referenceAllele": "R",
          "start": 1050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NP_001026.2:p.Arg1051Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA009097",
          "hgvs": "NM_001035.3:c.3151C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149448"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=196573[alleleid]",
        "alleleId": 196573,
        "preferredName": "NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/201235",
        "RCV": [
          "RCV000182708",
          "RCV000456036",
          "RCV001191860",
          "RCV002254283",
          "RCV002321722",
          "RCV002516878",
          "RCV003996752"
        ],
        "variationId": 201235
      }
    ]
  },
  "type": "amino-acid"
}