{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645448338",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 31,
          "referenceAllele": "D",
          "start": 30
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "NP_001294.2:p.Asp31Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8402242",
          "hgvs": "NM_001303.4:c.93C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA398247709",
          "hgvs": "NM_001303.4:c.93C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS166507"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=378069[alleleid]",
        "alleleId": 378069,
        "preferredName": "NM_001303.4(COX10):c.93C>A (p.Asp31Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/377746",
        "RCV": [
          "RCV001125643",
          "RCV001125644",
          "RCV001718821",
          "RCV003950347"
        ],
        "variationId": 377746
      }
    ]
  },
  "type": "amino-acid"
}