{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827190080",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 494,
          "referenceAllele": "A",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009722",
      "geneNCBI_id": 5832,
      "geneSymbol": "ALDH18A1",
      "hgvs": [
        "NP_001310342.1:p.Ala494Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5620295",
          "hgvs": "NM_001323413.2:c.1481C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660728"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1324451[alleleid]",
        "alleleId": 1324451,
        "preferredName": "NM_002860.4(ALDH18A1):c.1481C>T (p.Ala494Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1333680",
        "RCV": [
          "RCV001808896"
        ],
        "variationId": 1333680
      }
    ]
  },
  "type": "amino-acid"
}