{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA913196376",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 18,
          "referenceAllele": "I",
          "start": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001527",
      "geneNCBI_id": 857,
      "geneSymbol": "CAV1",
      "hgvs": [
        "NP_001744.2:p.Ile18Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4447819",
          "hgvs": "NM_001753.5:c.54C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167642"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=609644[alleleid]",
        "alleleId": 609644,
        "preferredName": "NM_001753.5(CAV1):c.54C>G (p.Ile18Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/618550",
        "RCV": [
          "RCV000757056",
          "RCV002536563"
        ],
        "variationId": 618550
      }
    ]
  },
  "type": "amino-acid"
}