{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826909889",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 759,
          "referenceAllele": "S",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NP_001293019.1:p.Ser759Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2836430",
          "hgvs": "NM_001306090.2:c.2276G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS166448"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=295186[alleleid]",
        "alleleId": 295186,
        "preferredName": "NM_153717.3(EVC):c.2276G>A (p.Ser759Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/349196",
        "RCV": [
          "RCV000331568",
          "RCV000971701",
          "RCV003278784",
          "RCV003950234"
        ],
        "variationId": 349196
      }
    ]
  },
  "type": "amino-acid"
}