{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826375087",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 588,
          "referenceAllele": "S",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NP_001243112.1:p.Ser588Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8242700",
          "hgvs": "NM_001256183.2:c.1763C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS159589"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=580442[alleleid]",
        "alleleId": 580442,
        "preferredName": "NM_013275.6(ANKRD11):c.1763C>T (p.Ser588Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/589037",
        "RCV": [
          "RCV001281509",
          "RCV001556943",
          "RCV001862052",
          "RCV002317981"
        ],
        "variationId": 589037
      }
    ]
  },
  "type": "amino-acid"
}