{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825624599",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 167,
          "referenceAllele": "N",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NP_001120977.1:p.Asn167Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA370430268",
          "hgvs": "NM_001127505.3:c.500A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152106"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=800730[alleleid]",
        "alleleId": 800730,
        "preferredName": "NM_177924.5(ASAH1):c.518A>T (p.Asn173Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/812480",
        "RCV": [
          "RCV001003309"
        ],
        "variationId": 812480
      }
    ]
  },
  "type": "amino-acid"
}