{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826064165",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 537,
          "referenceAllele": "V",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016406",
      "geneNCBI_id": 114327,
      "geneSymbol": "EFHC1",
      "hgvs": [
        "NP_001165891.1:p.Val537Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3856163",
          "hgvs": "NM_001172420.2:c.1609G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155922"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1027254[alleleid]",
        "alleleId": 1027254,
        "preferredName": "NM_018100.4(EFHC1):c.1666G>A (p.Val556Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1046112",
        "RCV": [
          "RCV003771007"
        ],
        "variationId": 1046112
      }
    ]
  },
  "type": "amino-acid"
}