{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA094656",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 252,
          "referenceAllele": "F",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NP_000148.2:p.Phe252Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA221413",
          "hgvs": "NM_000157.4:c.754T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146707"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19340[alleleid]",
        "alleleId": 19340,
        "preferredName": "NM_000157.4(GBA1):c.754T>A (p.Phe252Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4301",
        "RCV": [
          "RCV000004540",
          "RCV000004541",
          "RCV000004542",
          "RCV000020158",
          "RCV000790654",
          "RCV002482827",
          "RCV004018559"
        ],
        "variationId": 4301
      }
    ]
  },
  "type": "amino-acid"
}