{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828167573",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 2519,
          "referenceAllele": "G",
          "start": 2518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "NP_001352045.1:p.Gly2519Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2362226",
          "hgvs": "NM_001365116.2:c.7556G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS657429"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=271697[alleleid]",
        "alleleId": 271697,
        "preferredName": "NM_015175.3(NBEAL2):c.7658G>A (p.Gly2553Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/287460",
        "RCV": [
          "RCV000384735",
          "RCV001144871",
          "RCV001820829",
          "RCV003920125"
        ],
        "variationId": 287460
      }
    ]
  },
  "type": "amino-acid"
}