{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915954914",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 251,
          "referenceAllele": "Y",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NP_001005742.1:p.Tyr251His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA253079",
          "hgvs": "NM_001005742.2:c.751T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS148257"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19348[alleleid]",
        "alleleId": 19348,
        "preferredName": "NM_000157.4(GBA1):c.751T>C (p.Tyr251His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4309",
        "RCV": [
          "RCV000004551",
          "RCV001248859",
          "RCV003133115"
        ],
        "variationId": 4309
      }
    ]
  },
  "type": "amino-acid"
}