{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658827071",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 86,
          "referenceAllele": "H",
          "start": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "NP_000226.2:p.His86Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5593770",
          "hgvs": "NM_000235.4:c.256C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146783"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=545319[alleleid]",
        "alleleId": 545319,
        "preferredName": "NM_000235.4(LIPA):c.256C>T (p.His86Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/555658",
        "RCV": [
          "RCV000671520",
          "RCV001868255"
        ],
        "variationId": 555658
      }
    ]
  },
  "type": "amino-acid"
}