{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA130480",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 403,
          "referenceAllele": "",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001391",
      "geneNCBI_id": 776,
      "geneSymbol": "CACNA1D",
      "hgvs": [
        "NP_000711.1:p.Gly403dup"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA130479",
          "hgvs": "NM_000720.4:c.1208_1209insGGG"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147232"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48308[alleleid]",
        "alleleId": 48308,
        "preferredName": "NM_000720.4(CACNA1D):c.1208_1209insGGG (p.Gly403dup)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39709",
        "RCV": [
          "RCV000032914",
          "RCV002514138"
        ],
        "variationId": 39709
      }
    ]
  },
  "type": "amino-acid"
}