{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA253109",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 367,
          "referenceAllele": "G",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NP_001165283.1:p.Gly367Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA253107",
          "hgvs": "NM_001171812.2:c.1099G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155833"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19366[alleleid]",
        "alleleId": 19366,
        "preferredName": "NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4327",
        "RCV": [
          "RCV000004572",
          "RCV000004571",
          "RCV000055772",
          "RCV000723428",
          "RCV001004116",
          "RCV001270486",
          "RCV002482828"
        ],
        "variationId": 4327
      }
    ]
  },
  "type": "amino-acid"
}