{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829340117",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 208,
          "referenceAllele": "E",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001116",
      "geneNCBI_id": 682,
      "geneSymbol": "BSG",
      "hgvs": [
        "NP_001719.2:p.Glu208Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA127371",
          "hgvs": "NM_001728.4:c.622G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167618"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32790[alleleid]",
        "alleleId": 32790,
        "preferredName": "NM_001728.4(BSG):c.622G>A (p.Glu208Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17751",
        "RCV": [
          "RCV000019327"
        ],
        "variationId": 17751
      }
    ]
  },
  "type": "amino-acid"
}