{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827470498",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 411,
          "referenceAllele": "S",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NP_001336833.1:p.Ser411Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10163370",
          "hgvs": "NM_001349904.2:c.1232G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625073"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=351254[alleleid]",
        "alleleId": 351254,
        "preferredName": "NM_022081.6(HPS4):c.1232G>A (p.Ser411Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/341009",
        "RCV": [
          "RCV000277365",
          "RCV001861198",
          "RCV003243097"
        ],
        "variationId": 341009
      }
    ]
  },
  "type": "amino-acid"
}