{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826373033",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 248,
          "referenceAllele": "K",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NP_001243111.1:p.Lys248Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA397166614",
          "hgvs": "NM_001256182.2:c.744G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA397166616",
          "hgvs": "NM_001256182.2:c.744G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS159588"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1689621[alleleid]",
        "alleleId": 1689621,
        "preferredName": "NM_013275.6(ANKRD11):c.744G>C (p.Lys248Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1697226",
        "RCV": [
          "RCV002267565"
        ],
        "variationId": 1697226
      }
    ]
  },
  "type": "amino-acid"
}