{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580446100",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1349,
          "referenceAllele": "R",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001388",
      "geneNCBI_id": 773,
      "geneSymbol": "CACNA1A",
      "hgvs": [
        "NP_075461.2:p.Arg1349Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA404340015",
          "hgvs": "NM_023035.3:c.4046G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178074"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1860539[alleleid]",
        "alleleId": 1860539,
        "preferredName": "NM_001127222.2(CACNA1A):c.4034G>T (p.Arg1345Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1803511",
        "RCV": [
          "RCV002467181"
        ],
        "variationId": 1803511
      }
    ]
  },
  "type": "amino-acid"
}