{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580423790",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 266,
          "referenceAllele": "L",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000079",
      "geneNCBI_id": 28,
      "geneSymbol": "ABO",
      "hgvs": [
        "NP_065202.2:p.Leu266Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5305733",
          "hgvs": "NM_020469.3:c.796C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176958"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1688811[alleleid]",
        "alleleId": 1688811,
        "preferredName": "NM_020469.3(ABO):c.796C>A (p.Leu266Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1696777",
        "variationId": 1696777
      }
    ]
  },
  "type": "amino-acid"
}