{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826863892",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 1577,
          "referenceAllele": "D",
          "start": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014633",
      "geneNCBI_id": 57188,
      "geneSymbol": "ADAMTSL3",
      "hgvs": [
        "NP_001288039.1:p.Asp1577His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA393343861",
          "hgvs": "NM_001301110.2:c.4729G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS165582"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2404677[alleleid]",
        "alleleId": 2404677,
        "preferredName": "NM_207517.3(ADAMTSL3):c.4729G>C (p.Asp1577His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2431171",
        "RCV": [
          "RCV003129704"
        ],
        "variationId": 2431171
      }
    ]
  },
  "type": "amino-acid"
}