{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915962508",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 2280,
          "referenceAllele": "V",
          "start": 2279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NP_001036188.1:p.Val2280Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA405666532",
          "hgvs": "NM_001042723.2:c.6838G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150282"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=536983[alleleid]",
        "alleleId": 536983,
        "preferredName": "NM_000540.3(RYR1):c.6838G>T (p.Val2280Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/546504",
        "RCV": [
          "RCV000658391",
          "RCV000765448",
          "RCV004004190"
        ],
        "variationId": 546504
      }
    ]
  },
  "type": "amino-acid"
}