{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825245274",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 393,
          "referenceAllele": "P",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NP_001002235.1:p.Pro393Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7327256",
          "hgvs": "NM_001002235.3:c.1177C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147716"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=273372[alleleid]",
        "alleleId": 273372,
        "preferredName": "NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/289135",
        "RCV": [
          "RCV000336993",
          "RCV000443069",
          "RCV003409418"
        ],
        "variationId": 289135
      }
    ]
  },
  "type": "amino-acid"
}