{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580570267",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 542,
          "referenceAllele": "A",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028061",
      "geneNCBI_id": 90288,
      "geneSymbol": "EFCAB12",
      "hgvs": [
        "NP_997190.1:p.Ala542Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA354452017",
          "hgvs": "NM_207307.3:c.1625C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185943"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2231725[alleleid]",
        "alleleId": 2231725,
        "preferredName": "NM_207307.3(EFCAB12):c.1625C>T (p.Ala542Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2237540",
        "RCV": [
          "RCV004098546"
        ],
        "variationId": 2237540
      }
    ]
  },
  "type": "amino-acid"
}