{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825624536",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 132,
          "referenceAllele": "E",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NP_001120977.1:p.Glu132Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA370431699",
          "hgvs": "NM_001127505.3:c.395A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152106"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1679230[alleleid]",
        "alleleId": 1679230,
        "preferredName": "NM_177924.5(ASAH1):c.413A>G (p.Glu138Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1687065",
        "RCV": [
          "RCV002250396"
        ],
        "variationId": 1687065
      }
    ]
  },
  "type": "amino-acid"
}