{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645294892",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 562,
          "referenceAllele": "A",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NP_690054.1:p.Ala562Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10163259",
          "hgvs": "NM_152841.2:c.1685C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182686"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=337668[alleleid]",
        "alleleId": 337668,
        "preferredName": "NM_022081.6(HPS4):c.1700C>T (p.Ala567Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/341002",
        "RCV": [
          "RCV000408332",
          "RCV000598107",
          "RCV000878999",
          "RCV003969984"
        ],
        "variationId": 341002
      }
    ]
  },
  "type": "amino-acid"
}