{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826063998",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 234,
          "referenceAllele": "D",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016406",
      "geneNCBI_id": 114327,
      "geneSymbol": "EFHC1",
      "hgvs": [
        "NP_001165891.1:p.Asp234Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA138977749",
          "hgvs": "NM_001172420.2:c.700G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155922"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1027248[alleleid]",
        "alleleId": 1027248,
        "preferredName": "NM_018100.4(EFHC1):c.757G>A (p.Asp253Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1035636",
        "RCV": [
          "RCV002242467"
        ],
        "variationId": 1035636
      }
    ]
  },
  "type": "amino-acid"
}