{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA119457",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 78,
          "referenceAllele": "T",
          "start": 77
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001529",
      "geneNCBI_id": 859,
      "geneSymbol": "CAV3",
      "hgvs": [
        "NP_203123.1:p.Thr78Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119455",
          "hgvs": "NM_033337.3:c.233C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180205"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23332[alleleid]",
        "alleleId": 23332,
        "preferredName": "NM_033337.3(CAV3):c.233C>T (p.Thr78Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8293",
        "RCV": [
          "RCV000008790",
          "RCV000008791",
          "RCV000024406",
          "RCV000039801",
          "RCV000168328",
          "RCV000242756",
          "RCV000769173",
          "RCV000987088",
          "RCV001144019",
          "RCV003924817"
        ],
        "variationId": 8293
      }
    ]
  },
  "type": "amino-acid"
}