{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915967203",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 252,
          "referenceAllele": "I",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "NP_001121077.1:p.Ile252Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5593621",
          "hgvs": "NM_001127605.3:c.754A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA377516963",
          "hgvs": "NM_001127605.3:c.754A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152122"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=311638[alleleid]",
        "alleleId": 311638,
        "preferredName": "NM_000235.4(LIPA):c.754A>T (p.Ile252Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/301576",
        "RCV": [
          "RCV000287212",
          "RCV000887810",
          "RCV000478562",
          "RCV001705448",
          "RCV002392837",
          "RCV004544508"
        ],
        "variationId": 301576
      }
    ]
  },
  "type": "amino-acid"
}