{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825009831",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 176,
          "referenceAllele": "V",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NP_000059.3:p.Val176Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16608963",
          "hgvs": "NM_000068.4:c.526G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA404967426",
          "hgvs": "NM_000068.4:c.526G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146620"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=379478[alleleid]",
        "alleleId": 379478,
        "preferredName": "NM_001127222.2(CACNA1A):c.526G>C (p.Val176Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/384320",
        "RCV": [
          "RCV000440690",
          "RCV000558866"
        ],
        "variationId": 384320
      }
    ]
  },
  "type": "amino-acid"
}