{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826748582",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 226,
          "referenceAllele": "G",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "NP_001275908.1:p.Gly226Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5593529",
          "hgvs": "NM_001288979.2:c.676G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA377516311",
          "hgvs": "NM_001288979.2:c.676G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164155"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=545612[alleleid]",
        "alleleId": 545612,
        "preferredName": "NM_000235.4(LIPA):c.1024G>A (p.Gly342Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1469414[alleleid]",
        "alleleId": 1469414,
        "preferredName": "NM_000235.4(LIPA):c.1024G>C (p.Gly342Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/555337",
        "RCV": [
          "RCV000671138",
          "RCV001376593"
        ],
        "variationId": 555337
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1350454",
        "RCV": [
          "RCV002041867"
        ],
        "variationId": 1350454
      }
    ]
  },
  "type": "amino-acid"
}