{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645442211",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 792,
          "referenceAllele": "R",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "NP_055990.1:p.Arg792Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2360612",
          "hgvs": "NM_015175.3:c.2375G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174340"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=290794[alleleid]",
        "alleleId": 290794,
        "preferredName": "NM_015175.3(NBEAL2):c.2375G>A (p.Arg792Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/345637",
        "RCV": [
          "RCV000275333",
          "RCV001270605",
          "RCV002520133",
          "RCV003912457"
        ],
        "variationId": 345637
      }
    ]
  },
  "type": "amino-acid"
}