{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA130796",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 1040,
          "referenceAllele": "L",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001400",
      "geneNCBI_id": 9254,
      "geneSymbol": "CACNA2D2",
      "hgvs": [
        "NP_001005505.1:p.Leu1040Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA130795",
          "hgvs": "NM_001005505.3:c.3119T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS148233"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48716[alleleid]",
        "alleleId": 48716,
        "preferredName": "NM_006030.4(CACNA2D2):c.3119T>C (p.Leu1040Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40230",
        "RCV": [
          "RCV001804159"
        ],
        "variationId": 40230
      }
    ]
  },
  "type": "amino-acid"
}