{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA088654",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 4279,
          "referenceAllele": "M",
          "start": 4278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NP_001026.2:p.Met4279Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA085245",
          "hgvs": "NM_001035.3:c.12837G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA345414392",
          "hgvs": "NM_001035.3:c.12837G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA345414394",
          "hgvs": "NM_001035.3:c.12837G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149448"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=224208[alleleid]",
        "alleleId": 224208,
        "preferredName": "NM_001035.3(RYR2):c.12837G>A (p.Met4279Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/222794",
        "RCV": [
          "RCV000208489",
          "RCV001194102",
          "RCV002515553",
          "RCV002381717",
          "RCV002494544"
        ],
        "variationId": 222794
      }
    ]
  },
  "type": "amino-acid"
}