{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580513356",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 12,
          "referenceAllele": "E",
          "start": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018060",
      "geneNCBI_id": 170302,
      "geneSymbol": "ARX",
      "hgvs": [
        "NP_620689.1:p.Glu12Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA412614045",
          "hgvs": "NM_139058.3:c.34G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181488"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2411829[alleleid]",
        "alleleId": 2411829,
        "preferredName": "NM_139058.3(ARX):c.34G>A (p.Glu12Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2439217",
        "RCV": [
          "RCV003141552"
        ],
        "variationId": 2439217
      }
    ]
  },
  "type": "amino-acid"
}