{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645456156",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1494,
          "referenceAllele": "V",
          "start": 1493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NP_000531.2:p.Val1494Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA066143",
          "hgvs": "NM_000540.3:c.4481T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147075"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=333340[alleleid]",
        "alleleId": 333340,
        "preferredName": "NM_000540.3(RYR1):c.4481T>C (p.Val1494Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/329029",
        "RCV": [
          "RCV000270553",
          "RCV000306888",
          "RCV000364887",
          "RCV000369799",
          "RCV001224473"
        ],
        "variationId": 329029
      }
    ]
  },
  "type": "amino-acid"
}