{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA351971",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 126,
          "referenceAllele": "S",
          "start": 125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NP_001026.2:p.Ser126Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA351970",
          "hgvs": "NM_001035.3:c.378T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA345655047",
          "hgvs": "NM_001035.3:c.376A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA345655051",
          "hgvs": "NM_001035.3:c.378T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149448"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=224197[alleleid]",
        "alleleId": 224197,
        "preferredName": "NM_001035.3(RYR2):c.378T>A (p.Ser126Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/222783",
        "RCV": [
          "RCV000208358"
        ],
        "variationId": 222783
      }
    ]
  },
  "type": "amino-acid"
}