{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825933484",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 196,
          "referenceAllele": "L",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016041",
      "geneNCBI_id": 51705,
      "geneSymbol": "EMCN",
      "hgvs": [
        "NP_001153166.1:p.Leu196Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3023946",
          "hgvs": "NM_001159694.2:c.586C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS154529"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2342670[alleleid]",
        "alleleId": 2342670,
        "preferredName": "NM_016242.4(EMCN):c.625C>G (p.Leu209Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2351609",
        "RCV": [
          "RCV004196752"
        ],
        "variationId": 2351609
      }
    ]
  },
  "type": "amino-acid"
}