{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826253331",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 248,
          "referenceAllele": "T",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NP_001188306.1:p.Thr248Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA126901920",
          "hgvs": "NM_001201377.2:c.742A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157791"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=990527[alleleid]",
        "alleleId": 990527,
        "preferredName": "NM_001182.5(ALDH7A1):c.826A>G (p.Thr276Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/999799",
        "RCV": [
          "RCV001295839",
          "RCV002543039"
        ],
        "variationId": 999799
      }
    ]
  },
  "type": "amino-acid"
}