{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826788892",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 52,
          "referenceAllele": "L",
          "start": 51
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "NP_001277716.1:p.Leu52Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2167634",
          "hgvs": "NM_001290787.1:c.155T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164615"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=719711[alleleid]",
        "alleleId": 719711,
        "preferredName": "NM_004826.4(ECEL1):c.155T>C (p.Leu52Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/707886",
        "RCV": [
          "RCV000879058",
          "RCV003908381"
        ],
        "variationId": 707886
      }
    ]
  },
  "type": "amino-acid"
}