{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826797690",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 1155,
          "referenceAllele": "L",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NP_001278346.1:p.Leu1155Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16609406",
          "hgvs": "NM_001291417.2:c.3463C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164678"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=384426[alleleid]",
        "alleleId": 384426,
        "preferredName": "NM_001291415.2(KDM6A):c.3754C>T (p.Leu1252Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/397533",
        "RCV": [
          "RCV000449529"
        ],
        "variationId": 397533
      }
    ]
  },
  "type": "amino-acid"
}