{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825250079",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 456,
          "referenceAllele": "R",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NP_000715.2:p.Arg456Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5430089",
          "hgvs": "NM_000724.3:c.1366C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147236"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1377062[alleleid]",
        "alleleId": 1377062,
        "preferredName": "NM_201596.3(CACNB2):c.1531C>T (p.Arg511Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1389582",
        "RCV": [
          "RCV001897971",
          "RCV002386670"
        ],
        "variationId": 1389582
      }
    ]
  },
  "type": "amino-acid"
}