{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828459949",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 325,
          "referenceAllele": "V",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NP_001358955.1:p.Val325Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA322676",
          "hgvs": "NM_001372026.1:c.973G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709457"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=211468[alleleid]",
        "alleleId": 211468,
        "preferredName": "NM_078470.6(COX15):c.1000G>T (p.Val334Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/214251",
        "RCV": [
          "RCV000994490",
          "RCV002517203"
        ],
        "variationId": 214251
      }
    ]
  },
  "type": "amino-acid"
}