{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827050568",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 2245,
          "referenceAllele": "E",
          "start": 2244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002926",
      "geneNCBI_id": 1755,
      "geneSymbol": "DMBT1",
      "hgvs": [
        "NP_001307573.1:p.Glu2245Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5728450",
          "hgvs": "NM_001320644.2:c.6733G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS634358"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2447261[alleleid]",
        "alleleId": 2447261,
        "preferredName": "NM_001377530.1(DMBT1):c.7123G>A (p.Glu2375Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2464530",
        "RCV": [
          "RCV004262553"
        ],
        "variationId": 2464530
      }
    ]
  },
  "type": "amino-acid"
}