{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826854006",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 126,
          "referenceAllele": "L",
          "start": 125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001386",
      "geneNCBI_id": 57010,
      "geneSymbol": "CABP4",
      "hgvs": [
        "NP_001287824.1:p.Leu126Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA224144439",
          "hgvs": "NM_001300895.3:c.377T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS165402"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=994690[alleleid]",
        "alleleId": 994690,
        "preferredName": "NM_145200.5(CABP4):c.692T>C (p.Leu231Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1007462",
        "RCV": [
          "RCV001304647"
        ],
        "variationId": 1007462
      }
    ]
  },
  "type": "amino-acid"
}