{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA151407",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 493,
          "referenceAllele": "D",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018340",
      "geneNCBI_id": 57728,
      "geneSymbol": "WDR19",
      "hgvs": [
        "NP_079408.3:p.Asp493His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA151406",
          "hgvs": "NM_025132.4:c.1477G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178741"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=132653[alleleid]",
        "alleleId": 132653,
        "preferredName": "NM_025132.4(WDR19):c.1477G>C (p.Asp493His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127155",
        "RCV": [
          "RCV000115011",
          "RCV001281114",
          "RCV001753491",
          "RCV001854543"
        ],
        "variationId": 127155
      }
    ]
  },
  "type": "amino-acid"
}