{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827376063",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 43,
          "referenceAllele": "K",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025519",
      "geneNCBI_id": 55129,
      "geneSymbol": "ANO10",
      "hgvs": [
        "NP_001333398.1:p.Lys43Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA352346502",
          "hgvs": "NM_001346469.1:c.127A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624570"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=888908[alleleid]",
        "alleleId": 888908,
        "preferredName": "NM_018075.5(ANO10):c.127A>G (p.Lys43Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/902718",
        "RCV": [
          "RCV001149463"
        ],
        "variationId": 902718
      }
    ]
  },
  "type": "amino-acid"
}