{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826485583",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 684,
          "referenceAllele": "F",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029105",
      "geneNCBI_id": 57449,
      "geneSymbol": "PLEKHG5",
      "hgvs": [
        "NP_001252521.2:p.Phe684Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA114710",
          "hgvs": "NM_001265592.2:c.2051T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS739406"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16058[alleleid]",
        "alleleId": 16058,
        "preferredName": "NM_020631.6(PLEKHG5):c.1940T>C (p.Phe647Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1019",
        "RCV": [
          "RCV000001074",
          "RCV000790140"
        ],
        "variationId": 1019
      }
    ]
  },
  "type": "amino-acid"
}