{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA290465",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 366,
          "referenceAllele": "V",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "NP_001294.2:p.Val366Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA290464",
          "hgvs": "NM_001303.4:c.1096G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA8402532",
          "hgvs": "NM_001303.4:c.1096G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS166507"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=140705[alleleid]",
        "alleleId": 140705,
        "preferredName": "NM_001303.4(COX10):c.1096G>T (p.Val366Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/137002",
        "RCV": [
          "RCV000124567",
          "RCV000961080",
          "RCV001127831",
          "RCV001127832",
          "RCV001802947"
        ],
        "variationId": 137002
      }
    ]
  },
  "type": "amino-acid"
}