{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826909710",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 573,
          "referenceAllele": "N",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NP_001293019.1:p.Asn573Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA356161234",
          "hgvs": "NM_001306090.2:c.1717A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS166448"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=829431[alleleid]",
        "alleleId": 829431,
        "preferredName": "NM_153717.3(EVC):c.1717A>G (p.Asn573Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/842463",
        "RCV": [
          "RCV001044889",
          "RCV001832427",
          "RCV002552569"
        ],
        "variationId": 842463
      }
    ]
  },
  "type": "amino-acid"
}