{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826949347",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 1059,
          "referenceAllele": "L",
          "start": 1058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "NP_001300936.1:p.Leu1059Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3478844",
          "hgvs": "NM_001314007.2:c.3175C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS166980"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=562898[alleleid]",
        "alleleId": 562898,
        "preferredName": "NM_005219.5(DIAPH1):c.3175C>G (p.Leu1059Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/578663",
        "RCV": [
          "RCV000701741",
          "RCV004017721"
        ],
        "variationId": 578663
      }
    ]
  },
  "type": "amino-acid"
}