{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828088780",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 189,
          "referenceAllele": "T",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NP_001350450.1:p.Thr189Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA339858",
          "hgvs": "NM_001363521.2:c.566C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625893"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16045[alleleid]",
        "alleleId": 16045,
        "preferredName": "NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1006",
        "RCV": [
          "RCV000001061",
          "RCV001826401",
          "RCV001781155",
          "RCV002371752"
        ],
        "variationId": 1006
      }
    ]
  },
  "type": "amino-acid"
}