{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA132993",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 2113,
          "referenceAllele": "V",
          "start": 2112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NP_001026.2:p.Val2113Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA010110",
          "hgvs": "NM_001035.3:c.6337G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149448"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=52982[alleleid]",
        "alleleId": 52982,
        "preferredName": "NM_001035.3(RYR2):c.6337G>A (p.Val2113Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/43813",
        "RCV": [
          "RCV000036777",
          "RCV000171764",
          "RCV000620555",
          "RCV000766718",
          "RCV000769789",
          "RCV001099125"
        ],
        "variationId": 43813
      }
    ]
  },
  "type": "amino-acid"
}