{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826910286",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 190,
          "referenceAllele": "R",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NP_001293021.1:p.Arg190Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA245489",
          "hgvs": "NM_001306092.2:c.569G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS166450"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=194544[alleleid]",
        "alleleId": 194544,
        "preferredName": "NM_153717.3(EVC):c.569G>T (p.Arg190Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/197383",
        "RCV": [
          "RCV001157455",
          "RCV001563967",
          "RCV002515263",
          "RCV000178396",
          "RCV002517731"
        ],
        "variationId": 197383
      }
    ]
  },
  "type": "amino-acid"
}