{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825809983",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 815,
          "referenceAllele": "E",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "NP_001136121.1:p.Glu815Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5923587",
          "hgvs": "NM_001142649.2:c.2443G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153495"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=274518[alleleid]",
        "alleleId": 274518,
        "preferredName": "NM_213599.3(ANO5):c.2446G>A (p.Glu816Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/290281",
        "RCV": [
          "RCV000293643",
          "RCV001850463"
        ],
        "variationId": 290281
      }
    ]
  },
  "type": "amino-acid"
}