{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828303950",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 180,
          "referenceAllele": "H",
          "start": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000408",
      "geneNCBI_id": 7915,
      "geneSymbol": "ALDH5A1",
      "hgvs": [
        "NP_001355883.1:p.His180Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA151744",
          "hgvs": "NM_001368954.1:c.538C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708552"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=133792[alleleid]",
        "alleleId": 133792,
        "preferredName": "NM_001080.3(ALDH5A1):c.538C>T (p.His180Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/128343",
        "RCV": [
          "RCV000116307",
          "RCV000375656",
          "RCV001711276"
        ],
        "variationId": 128343
      }
    ]
  },
  "type": "amino-acid"
}