{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580104283",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 1087,
          "referenceAllele": "Q",
          "start": 1086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "NP_000060.2:p.Gln1087His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA079627",
          "hgvs": "NM_000069.3:c.3261A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA344161202",
          "hgvs": "NM_000069.3:c.3261A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146621"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1870933[alleleid]",
        "alleleId": 1870933,
        "preferredName": "NM_000069.3(CACNA1S):c.3261A>C (p.Gln1087His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2148145",
        "RCV": [
          "RCV003068704"
        ],
        "variationId": 2148145
      }
    ]
  },
  "type": "amino-acid"
}