{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA133004",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2721,
          "referenceAllele": "I",
          "start": 2720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NP_001026.2:p.Ile2721Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA010859",
          "hgvs": "NM_001035.3:c.8162T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149448"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=52997[alleleid]",
        "alleleId": 52997,
        "preferredName": "NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/43828",
        "RCV": [
          "RCV000036794",
          "RCV000227013",
          "RCV000590879",
          "RCV000621651",
          "RCV000656198",
          "RCV000771869",
          "RCV001095884",
          "RCV001095885",
          "RCV004541108"
        ],
        "variationId": 43828
      }
    ]
  },
  "type": "amino-acid"
}