{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828108475",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 40,
          "referenceAllele": "L",
          "start": 39
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NP_001350672.1:p.Leu40Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA370432878",
          "hgvs": "NM_001363743.1:c.119T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617954"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=800735[alleleid]",
        "alleleId": 800735,
        "preferredName": "NM_177924.5(ASAH1):c.314T>C (p.Leu105Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/812503",
        "RCV": [
          "RCV001003333"
        ],
        "variationId": 812503
      }
    ]
  },
  "type": "amino-acid"
}