{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645415850",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 451,
          "referenceAllele": "S",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "NP_000060.2:p.Ser451Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA078157",
          "hgvs": "NM_000069.3:c.1352C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146621"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=278451[alleleid]",
        "alleleId": 278451,
        "preferredName": "NM_000069.3(CACNA1S):c.1352C>T (p.Ser451Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/294767",
        "RCV": [
          "RCV000484498",
          "RCV000263862",
          "RCV000697995",
          "RCV003517182",
          "RCV003165797"
        ],
        "variationId": 294767
      }
    ]
  },
  "type": "amino-acid"
}