{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826293319",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 163,
          "referenceAllele": "E",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018160",
      "geneNCBI_id": 51513,
      "geneSymbol": "ETV7",
      "hgvs": [
        "NP_001193967.1:p.Glu163Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA363828355",
          "hgvs": "NM_001207038.2:c.487G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS158431"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2287145[alleleid]",
        "alleleId": 2287145,
        "preferredName": "NM_016135.4(ETV7):c.718G>A (p.Glu240Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2295188",
        "RCV": [
          "RCV004145009"
        ],
        "variationId": 2295188
      }
    ]
  },
  "type": "amino-acid"
}