{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580151429",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 478,
          "referenceAllele": "C",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NP_001173.2:p.Cys478Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA360721130",
          "hgvs": "NM_001182.5:c.1433G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA360721136",
          "hgvs": "NM_001182.5:c.1432T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156599"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1867788[alleleid]",
        "alleleId": 1867788,
        "preferredName": "NM_001182.5(ALDH7A1):c.1432T>A (p.Cys478Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2136321",
        "RCV": [
          "RCV003037113"
        ],
        "variationId": 2136321
      }
    ]
  },
  "type": "amino-acid"
}