{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826794420",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 308,
          "referenceAllele": "L",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017158",
      "geneNCBI_id": 23646,
      "geneSymbol": "PLD3",
      "hgvs": [
        "NP_001278240.1:p.Leu308Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA308392236",
          "hgvs": "NM_001291311.2:c.923T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164653"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=439659[alleleid]",
        "alleleId": 439659,
        "preferredName": "NM_012268.4(PLD3):c.923T>C (p.Leu308Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/446268",
        "RCV": [
          "RCV000515513"
        ],
        "variationId": 446268
      }
    ]
  },
  "type": "amino-acid"
}