{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825244759",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 57,
          "referenceAllele": "F",
          "start": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NP_001002235.1:p.Phe57Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA390850631",
          "hgvs": "NM_001002235.3:c.171C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA390850632",
          "hgvs": "NM_001002235.3:c.171C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA390850636",
          "hgvs": "NM_001002235.3:c.169T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147716"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=437685[alleleid]",
        "alleleId": 437685,
        "preferredName": "NM_000295.5(SERPINA1):c.169T>C (p.Phe57Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/444038",
        "RCV": [
          "RCV000512624"
        ],
        "variationId": 444038
      }
    ]
  },
  "type": "amino-acid"
}