{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645492343",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 469,
          "referenceAllele": "R",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NP_001173.2:p.Arg469His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3389431",
          "hgvs": "NM_001182.5:c.1406G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156599"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=259803[alleleid]",
        "alleleId": 259803,
        "preferredName": "NM_001182.5(ALDH7A1):c.1406G>A (p.Arg469His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/265034",
        "RCV": [
          "RCV000256146",
          "RCV000327621",
          "RCV001252144",
          "RCV002392780"
        ],
        "variationId": 265034
      }
    ]
  },
  "type": "amino-acid"
}