{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580312089",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 457,
          "referenceAllele": "F",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003147",
      "geneNCBI_id": 9427,
      "geneSymbol": "ECEL1",
      "hgvs": [
        "NP_004817.2:p.Phe457Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2167326",
          "hgvs": "NM_004826.4:c.1369T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170510"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2401508[alleleid]",
        "alleleId": 2401508,
        "preferredName": "NM_004826.4(ECEL1):c.1369T>G (p.Phe457Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2412779",
        "RCV": [
          "RCV002790039"
        ],
        "variationId": 2412779
      }
    ]
  },
  "type": "amino-acid"
}