{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645496204",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 457,
          "referenceAllele": "E",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NP_714928.1:p.Glu457Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2836082",
          "hgvs": "NM_153717.3:c.1369G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183003"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=298874[alleleid]",
        "alleleId": 298874,
        "preferredName": "NM_153717.3(EVC):c.1369G>A (p.Glu457Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/349176",
        "RCV": [
          "RCV000356036",
          "RCV000609966",
          "RCV003902350",
          "RCV000542079",
          "RCV001573985"
        ],
        "variationId": 349176
      }
    ]
  },
  "type": "amino-acid"
}