{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825600137",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 533,
          "referenceAllele": "H",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "NP_001120703.1:p.His533Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16618553",
          "hgvs": "NM_001127231.3:c.1598A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152038"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=407247[alleleid]",
        "alleleId": 407247,
        "preferredName": "NM_015570.4(AUTS2):c.1598A>T (p.His533Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/421944",
        "RCV": [
          "RCV000486237"
        ],
        "variationId": 421944
      }
    ]
  },
  "type": "amino-acid"
}