{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645416060",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 1508,
          "referenceAllele": "Q",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "NP_000060.2:p.Gln1508Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16617038",
          "hgvs": "NM_000069.3:c.4522C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146621"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=405006[alleleid]",
        "alleleId": 405006,
        "preferredName": "NM_000069.3(CACNA1S):c.4522C>G (p.Gln1508Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/422368",
        "RCV": [
          "RCV000481252",
          "RCV002481522",
          "RCV003449233",
          "RCV003449232",
          "RCV001851232",
          "RCV003449231",
          "RCV003458442"
        ],
        "variationId": 422368
      }
    ]
  },
  "type": "amino-acid"
}