{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826089139",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 342,
          "referenceAllele": "V",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NP_001165283.1:p.Val342Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA221384",
          "hgvs": "NM_001171812.2:c.1024G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA342715134",
          "hgvs": "NM_001171812.2:c.1024G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155833"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=99353[alleleid]",
        "alleleId": 99353,
        "preferredName": "NM_000157.4(GBA1):c.1171G>C (p.Val391Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/93446",
        "RCV": [
          "RCV000180534",
          "RCV000781412",
          "RCV001004119"
        ],
        "variationId": 93446
      }
    ]
  },
  "type": "amino-acid"
}