{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA100341",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 42,
          "referenceAllele": "M",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NP_000160.1:p.Met42Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA021494",
          "hgvs": "NM_000169.3:c.124A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA413937205",
          "hgvs": "NM_000169.3:c.124A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146719"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=190221[alleleid]",
        "alleleId": 190221,
        "preferredName": "NM_000169.3(GLA):c.124A>C (p.Met42Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/193056",
        "RCV": [
          "RCV000235742",
          "RCV000809963"
        ],
        "variationId": 193056
      }
    ]
  },
  "type": "amino-acid"
}