{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA254453",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1384,
          "referenceAllele": "Y",
          "start": 1383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NP_001120693.1:p.Tyr1384Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA254450",
          "hgvs": "NM_001127221.2:c.4151A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152029"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23538[alleleid]",
        "alleleId": 23538,
        "preferredName": "NM_001127222.2(CACNA1A):c.4148A>G (p.Tyr1383Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8499",
        "RCV": [
          "RCV000009022"
        ],
        "variationId": 8499
      }
    ]
  },
  "type": "amino-acid"
}