{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826283135",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 64,
          "referenceAllele": "T",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001529",
      "geneNCBI_id": 859,
      "geneSymbol": "CAV3",
      "hgvs": [
        "NP_001225.1:p.Thr64Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA351663261",
          "hgvs": "NM_001234.5:c.191C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS158516"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3017189[alleleid]",
        "alleleId": 3017189,
        "preferredName": "NM_033337.3(CAV3):c.191C>A (p.Thr64Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2855009",
        "RCV": [
          "RCV003648534"
        ],
        "variationId": 2855009
      }
    ]
  },
  "type": "amino-acid"
}