{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825065900",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 552,
          "referenceAllele": "L",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NP_000143.2:p.Leu552Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA401368813",
          "hgvs": "NM_000152.5:c.1654C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146702"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3141134[alleleid]",
        "alleleId": 3141134,
        "preferredName": "NM_000152.5(GAA):c.1654C>T (p.Leu552Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2977309",
        "RCV": [
          "RCV003831427"
        ],
        "variationId": 2977309
      }
    ]
  },
  "type": "amino-acid"
}