{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573064940",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 568,
          "referenceAllele": "H",
          "start": 567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NP_001073272.1:p.His568Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA401369027",
          "hgvs": "NM_001079804.3:c.1703A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150561"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1314711[alleleid]",
        "alleleId": 1314711,
        "preferredName": "NM_000152.5(GAA):c.1703A>T (p.His568Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1324439",
        "RCV": [
          "RCV001781144",
          "RCV001885183"
        ],
        "variationId": 1324439
      }
    ]
  },
  "type": "amino-acid"
}