{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828304551",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 198,
          "referenceAllele": "A",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NP_001355926.1:p.Ala198Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5022363",
          "hgvs": "NM_001368997.1:c.593C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707603"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=982727[alleleid]",
        "alleleId": 982727,
        "preferredName": "NM_001195248.2(APTX):c.593C>T (p.Ala198Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/994780",
        "RCV": [
          "RCV001288442",
          "RCV001814301"
        ],
        "variationId": 994780
      }
    ]
  },
  "type": "amino-acid"
}