{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916069631",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 218,
          "referenceAllele": "S",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NP_075461.2:p.Ser218Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA404348657",
          "hgvs": "NM_023035.3:c.653C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178074"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=791906[alleleid]",
        "alleleId": 791906,
        "preferredName": "NM_001127222.2(CACNA1A):c.653C>G (p.Ser218Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/803535",
        "RCV": [
          "RCV000990172"
        ],
        "variationId": 803535
      }
    ]
  },
  "type": "amino-acid"
}