{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915967246",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 298,
          "referenceAllele": "Q",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "NP_001121077.1:p.Gln298His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA377516636",
          "hgvs": "NM_001127605.3:c.894G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA377516637",
          "hgvs": "NM_001127605.3:c.894G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152122"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=423865[alleleid]",
        "alleleId": 423865,
        "preferredName": "NM_000235.4(LIPA):c.894G>C (p.Gln298His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/430634",
        "RCV": [
          "RCV000494734",
          "RCV001865556"
        ],
        "variationId": 430634
      }
    ]
  },
  "type": "amino-acid"
}