{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915961528",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 248,
          "referenceAllele": "G",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NP_001036188.1:p.Gly248Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA024797",
          "hgvs": "NM_001042723.2:c.742G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA024799",
          "hgvs": "NM_001042723.2:c.742G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150282"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28004[alleleid]",
        "alleleId": 28004,
        "preferredName": "NM_000540.3(RYR1):c.742G>A (p.Gly248Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=136950[alleleid]",
        "alleleId": 136950,
        "preferredName": "NM_000540.3(RYR1):c.742G>C (p.Gly248Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12965",
        "RCV": [
          "RCV000013831",
          "RCV000119713",
          "RCV001851834",
          "RCV004017237"
        ],
        "variationId": 12965
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/133203",
        "RCV": [
          "RCV000119714",
          "RCV000704587",
          "RCV002281946",
          "RCV003330082"
        ],
        "variationId": 133203
      }
    ]
  },
  "type": "amino-acid"
}