{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916024637",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 233,
          "referenceAllele": "Q",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010799",
      "geneNCBI_id": 729238,
      "geneSymbol": "SFTPA2",
      "hgvs": [
        "NP_001307743.1:p.Gln233Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5573983",
          "hgvs": "NM_001320814.1:c.697C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS634407"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=229920[alleleid]",
        "alleleId": 229920,
        "preferredName": "NM_001098668.4(SFTPA2):c.667C>A (p.Gln223Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/227071",
        "RCV": [
          "RCV000219264",
          "RCV001610530",
          "RCV001807144"
        ],
        "variationId": 227071
      }
    ]
  },
  "type": "amino-acid"
}