{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826283339",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 134,
          "referenceAllele": "A",
          "start": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001529",
      "geneNCBI_id": 859,
      "geneSymbol": "CAV3",
      "hgvs": [
        "NP_001225.1:p.Ala134Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2236361",
          "hgvs": "NM_001234.5:c.400G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS158516"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=272349[alleleid]",
        "alleleId": 272349,
        "preferredName": "NM_033337.3(CAV3):c.400G>A (p.Ala134Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/288112",
        "RCV": [
          "RCV000348197",
          "RCV000764517",
          "RCV001855199",
          "RCV004021242"
        ],
        "variationId": 288112
      }
    ]
  },
  "type": "amino-acid"
}