{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658681492",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 406,
          "referenceAllele": "S",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NP_001026.2:p.Ser406Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA085140",
          "hgvs": "NM_001035.3:c.1217C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149448"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=442764[alleleid]",
        "alleleId": 442764,
        "preferredName": "NM_001035.3(RYR2):c.1217C>T (p.Ser406Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/449305",
        "RCV": [
          "RCV000521452",
          "RCV004003599",
          "RCV002481695",
          "RCV002525113",
          "RCV001190504"
        ],
        "variationId": 449305
      }
    ]
  },
  "type": "amino-acid"
}