{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645396532",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 251,
          "referenceAllele": "T",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NP_071364.4:p.Thr251Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10163504",
          "hgvs": "NM_022081.5:c.751A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA411029142",
          "hgvs": "NM_022081.5:c.752C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177710"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=337677[alleleid]",
        "alleleId": 337677,
        "preferredName": "NM_022081.6(HPS4):c.751A>T (p.Thr251Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/341016",
        "RCV": [
          "RCV000304315",
          "RCV000614234",
          "RCV000856673",
          "RCV000950297",
          "RCV000767301"
        ],
        "variationId": 341016
      }
    ]
  },
  "type": "amino-acid"
}