{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA302351",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 2715,
          "referenceAllele": "E",
          "start": 2714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NP_001026.2:p.Glu2715Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA010841",
          "hgvs": "NM_001035.3:c.8145G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA345401138",
          "hgvs": "NM_001035.3:c.8145G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149448"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=178456[alleleid]",
        "alleleId": 178456,
        "preferredName": "NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/180497",
        "RCV": [
          "RCV000157460",
          "RCV000171765",
          "RCV000212982",
          "RCV000618062",
          "RCV001095883",
          "RCV001095882",
          "RCV000769797",
          "RCV003998341"
        ],
        "variationId": 180497
      }
    ]
  },
  "type": "amino-acid"
}