{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139677857",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 176,
          "referenceAllele": "L",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000626",
      "geneNCBI_id": 353,
      "geneSymbol": "APRT",
      "hgvs": [
        "NP_000476.1:p.Leu176Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA397086137",
          "hgvs": "NM_000485.3:c.526C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147020"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=975959[alleleid]",
        "alleleId": 975959,
        "preferredName": "NM_000485.3(APRT):c.526C>T (p.Leu176Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/988022",
        "RCV": [
          "RCV001269414"
        ],
        "variationId": 988022
      }
    ]
  },
  "type": "amino-acid"
}