{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499227744",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 749,
          "referenceAllele": "E",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "NP_000060.2:p.Glu749Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA344109538",
          "hgvs": "NM_000069.3:c.2245G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146621"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=987131[alleleid]",
        "alleleId": 987131,
        "preferredName": "NM_000069.3(CACNA1S):c.2245G>A (p.Glu749Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1011195",
        "RCV": [
          "RCV001308957",
          "RCV002499591",
          "RCV003458662",
          "RCV003449884",
          "RCV003449883",
          "RCV003449882"
        ],
        "variationId": 1011195
      }
    ]
  },
  "type": "amino-acid"
}