{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828589876",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 193,
          "referenceAllele": "K",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019087",
      "geneNCBI_id": 253738,
      "geneSymbol": "EBF3",
      "hgvs": [
        "NP_001362319.1:p.Lys193Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16044300",
          "hgvs": "NM_001375390.1:c.579G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA378910353",
          "hgvs": "NM_001375390.1:c.579G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706197"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362311[alleleid]",
        "alleleId": 362311,
        "preferredName": "NM_001375380.1(EBF3):c.579G>T (p.Lys193Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375501",
        "RCV": [
          "RCV000416948",
          "RCV003324747"
        ],
        "variationId": 375501
      }
    ]
  },
  "type": "amino-acid"
}