{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139672638",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 130,
          "referenceAllele": "L",
          "start": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000626",
      "geneNCBI_id": 353,
      "geneSymbol": "APRT",
      "hgvs": [
        "NP_001025189.1:p.Leu130Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA397087624",
          "hgvs": "NM_001030018.2:c.389T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149434"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=975972[alleleid]",
        "alleleId": 975972,
        "preferredName": "NM_000485.3(APRT):c.389T>C (p.Leu130Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/988063",
        "RCV": [
          "RCV001269455"
        ],
        "variationId": 988063
      }
    ]
  },
  "type": "amino-acid"
}