{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829390175",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 128,
          "referenceAllele": "R",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009722",
      "geneNCBI_id": 5832,
      "geneSymbol": "ALDH18A1",
      "hgvs": [
        "NP_002851.2:p.Arg128Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA377706744",
          "hgvs": "NM_002860.3:c.382C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168691"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1889011[alleleid]",
        "alleleId": 1889011,
        "preferredName": "NM_002860.4(ALDH18A1):c.382C>T (p.Arg128Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2154116",
        "RCV": [
          "RCV003777554"
        ],
        "variationId": 2154116
      }
    ]
  },
  "type": "amino-acid"
}