{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA325645",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 247,
          "referenceAllele": "R",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NP_001121175.1:p.Arg247Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA325638",
          "hgvs": "NM_001127703.2:c.739C>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA353866",
          "hgvs": "NM_001127703.2:c.[739C>T;187C>T]"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152159"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33000[alleleid]",
        "alleleId": 33000,
        "preferredName": "NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17961",
        "RCV": [
          "RCV000019561",
          "RCV000151833",
          "RCV000148879",
          "RCV000622899",
          "RCV000727618"
        ],
        "variationId": 17961
      }
    ]
  },
  "type": "amino-acid"
}