{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825248274",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 702,
          "referenceAllele": "A",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001392",
      "geneNCBI_id": 777,
      "geneSymbol": "CACNA1E",
      "hgvs": [
        "NP_000712.2:p.Ala702Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA33822752",
          "hgvs": "NM_000721.4:c.2104G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147233"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=511197[alleleid]",
        "alleleId": 511197,
        "preferredName": "NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/521483",
        "RCV": [
          "RCV000624563",
          "RCV000754084",
          "RCV001269715",
          "RCV001756024",
          "RCV001849415"
        ],
        "variationId": 521483
      }
    ]
  },
  "type": "amino-acid"
}