{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829382520",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 486,
          "referenceAllele": "H",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NP_002769.1:p.His486Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5547329",
          "hgvs": "NM_002778.4:c.1456C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168609"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=316052[alleleid]",
        "alleleId": 316052,
        "preferredName": "NM_002778.4(PSAP):c.1456C>T (p.His486Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/300508",
        "RCV": [
          "RCV000309664",
          "RCV000407182",
          "RCV000366675",
          "RCV000402799",
          "RCV002520626"
        ],
        "variationId": 300508
      }
    ]
  },
  "type": "amino-acid"
}