{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499301636",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 1,
          "referenceAllele": "M",
          "start": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NP_808592.2:p.Met1Ile"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183897"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1152300[alleleid]",
        "alleleId": 1152300,
        "preferredName": "NM_177924.5(ASAH1):c.3G>T (p.Met1Ile)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4862310[alleleid]",
        "alleleId": 4862310,
        "preferredName": "NM_177924.5(ASAH1):c.3G>C (p.Met1Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1163018",
        "RCV": [
          "RCV001507724",
          "RCV001647301",
          "RCV002506589"
        ],
        "variationId": 1163018
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4751395",
        "RCV": [
          "RCV006538539"
        ],
        "variationId": 4751395
      }
    ]
  },
  "type": "amino-acid"
}