{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645408059",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 535,
          "referenceAllele": "H",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "NP_056385.1:p.His535Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16043617",
          "hgvs": "NM_015570.4:c.1605C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA367668942",
          "hgvs": "NM_015570.4:c.1605C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174654"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=361129[alleleid]",
        "alleleId": 361129,
        "preferredName": "NM_015570.4(AUTS2):c.1605C>G (p.His535Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374224",
        "RCV": [
          "RCV000415119"
        ],
        "variationId": 374224
      }
    ]
  },
  "type": "amino-acid"
}