{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3057651489",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 2291,
          "referenceAllele": "E",
          "start": 2290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NP_037407.4:p.Glu2291Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA397149807",
          "hgvs": "NM_013275.6:c.6871G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173216"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3987643[alleleid]",
        "alleleId": 3987643,
        "preferredName": "NM_013275.6(ANKRD11):c.6871G>A (p.Glu2291Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3866460",
        "RCV": [
          "RCV005362550"
        ],
        "variationId": 3866460
      }
    ]
  },
  "type": "amino-acid"
}