{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826909247",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 30,
          "referenceAllele": "P",
          "start": 29
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NP_001293019.1:p.Pro30Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10606907",
          "hgvs": "NM_001306090.2:c.89C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS166448"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=275031[alleleid]",
        "alleleId": 275031,
        "preferredName": "NM_153717.3(EVC):c.89C>T (p.Pro30Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/290794",
        "RCV": [
          "RCV000398177",
          "RCV000536411",
          "RCV001153149",
          "RCV003479096",
          "RCV003977813"
        ],
        "variationId": 290794
      }
    ]
  },
  "type": "amino-acid"
}