{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825711671",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 518,
          "referenceAllele": "R",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001390",
      "geneNCBI_id": 775,
      "geneSymbol": "CACNA1C",
      "hgvs": [
        "NP_001123305.1:p.Arg518His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16042880",
          "hgvs": "NM_001129833.2:c.1553G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152348"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360088[alleleid]",
        "alleleId": 360088,
        "preferredName": "NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372313",
        "RCV": [
          "RCV000412828",
          "RCV000584800",
          "RCV000631664",
          "RCV001808785",
          "RCV002230228",
          "RCV002288982",
          "RCV002402099"
        ],
        "variationId": 372313
      }
    ]
  },
  "type": "amino-acid"
}