{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580419519",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 44,
          "referenceAllele": "K",
          "start": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025519",
      "geneNCBI_id": 55129,
      "geneSymbol": "ANO10",
      "hgvs": [
        "NP_060545.3:p.Lys44Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2341140",
          "hgvs": "NM_018075.5:c.130A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175954"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2411719[alleleid]",
        "alleleId": 2411719,
        "preferredName": "NM_018075.5(ANO10):c.130A>G (p.Lys44Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2439107",
        "RCV": [
          "RCV003141442"
        ],
        "variationId": 2439107
      }
    ]
  },
  "type": "amino-acid"
}