{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139671835",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 1579,
          "referenceAllele": "V",
          "start": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NP_001026.2:p.Val1579Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA086718",
          "hgvs": "NM_001035.3:c.4735G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149448"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=906748[alleleid]",
        "alleleId": 906748,
        "preferredName": "NM_001035.3(RYR2):c.4735G>A (p.Val1579Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/922010",
        "RCV": [
          "RCV001181794",
          "RCV001192693",
          "RCV001593312",
          "RCV004006763",
          "RCV004033063",
          "RCV002559005"
        ],
        "variationId": 922010
      }
    ]
  },
  "type": "amino-acid"
}