{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826088719",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 322,
          "referenceAllele": "N",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NP_001165282.1:p.Asn322Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA116767",
          "hgvs": "NM_001171811.2:c.965A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155832"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19329[alleleid]",
        "alleleId": 19329,
        "preferredName": "NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4290",
        "RCV": [
          "RCV000004517",
          "RCV000004515",
          "RCV000004516",
          "RCV000079336",
          "RCV000414782",
          "RCV000396221",
          "RCV000515439",
          "RCV001195689",
          "RCV001004117",
          "RCV001270528",
          "RCV001197918",
          "RCV002247244",
          "RCV004555830",
          "RCV003982824",
          "RCV004018556"
        ],
        "variationId": 4290
      }
    ]
  },
  "type": "amino-acid"
}