{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829547310",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 269,
          "referenceAllele": "C",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003153",
      "geneNCBI_id": 1893,
      "geneSymbol": "ECM1",
      "hgvs": [
        "NP_004416.2:p.Cys269Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1077557",
          "hgvs": "NM_004425.4:c.806G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170128"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1182526[alleleid]",
        "alleleId": 1182526,
        "preferredName": "NM_004425.4(ECM1):c.806G>A (p.Cys269Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1192520",
        "RCV": [
          "RCV001554299"
        ],
        "variationId": 1192520
      }
    ]
  },
  "type": "amino-acid"
}