{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2742012004",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 514,
          "referenceAllele": "L",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019747",
      "geneNCBI_id": 132884,
      "geneSymbol": "EVC2",
      "hgvs": [
        "NP_667338.3:p.Leu514Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2835016",
          "hgvs": "NM_147127.5:c.1540C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182109"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3098967[alleleid]",
        "alleleId": 3098967,
        "preferredName": "NM_147127.5(EVC2):c.1540C>T (p.Leu514Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2935293",
        "RCV": [
          "RCV003790947"
        ],
        "variationId": 2935293
      }
    ]
  },
  "type": "amino-acid"
}