{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915961216",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 257,
          "referenceAllele": "F",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004180",
      "geneNCBI_id": 2632,
      "geneSymbol": "GBE1",
      "hgvs": [
        "NP_000149.4:p.Phe257Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA115749",
          "hgvs": "NM_000158.4:c.771T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA353688013",
          "hgvs": "NM_000158.4:c.771T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA353688018",
          "hgvs": "NM_000158.4:c.769T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS674056"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17819[alleleid]",
        "alleleId": 17819,
        "preferredName": "NM_000158.4(GBE1):c.771T>A (p.Phe257Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2780",
        "RCV": [
          "RCV000002912",
          "RCV000056143",
          "RCV000433912",
          "RCV001851594"
        ],
        "variationId": 2780
      }
    ]
  },
  "type": "amino-acid"
}