{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825422929",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 4821,
          "referenceAllele": "T",
          "start": 4820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NP_001036188.1:p.Thr4821Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA024154",
          "hgvs": "NM_001042723.2:c.14462C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150282"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28017[alleleid]",
        "alleleId": 28017,
        "preferredName": "NM_000540.3(RYR1):c.14477C>T (p.Thr4826Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12978",
        "RCV": [
          "RCV000013847",
          "RCV000119520",
          "RCV001787768",
          "RCV001787769",
          "RCV001787770",
          "RCV001787771",
          "RCV001787772",
          "RCV001787774",
          "RCV001787773",
          "RCV003591630"
        ],
        "variationId": 12978
      }
    ]
  },
  "type": "amino-acid"
}