{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828108656",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 268,
          "referenceAllele": "R",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NP_001350672.1:p.Arg268Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4650601",
          "hgvs": "NM_001363743.1:c.802C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617954"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=577056[alleleid]",
        "alleleId": 577056,
        "preferredName": "NM_177924.5(ASAH1):c.997C>G (p.Arg333Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/585439",
        "RCV": [
          "RCV000710617",
          "RCV001003303",
          "RCV001814223"
        ],
        "variationId": 585439
      }
    ]
  },
  "type": "amino-acid"
}