{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658827086",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 357,
          "referenceAllele": "L",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "NP_000226.2:p.Leu357Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5593513",
          "hgvs": "NM_000235.4:c.1070T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146783"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=545947[alleleid]",
        "alleleId": 545947,
        "preferredName": "NM_000235.4(LIPA):c.1070T>C (p.Leu357Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/552474",
        "RCV": [
          "RCV000667739",
          "RCV001379331"
        ],
        "variationId": 552474
      }
    ]
  },
  "type": "amino-acid"
}