{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825624526",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 131,
          "referenceAllele": "Y",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NP_001120977.1:p.Tyr131Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4650862",
          "hgvs": "NM_001127505.3:c.392A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152106"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362358[alleleid]",
        "alleleId": 362358,
        "preferredName": "NM_177924.5(ASAH1):c.410A>G (p.Tyr137Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375548",
        "RCV": [
          "RCV000416939",
          "RCV001861470",
          "RCV004551416",
          "RCV002502451"
        ],
        "variationId": 375548
      }
    ]
  },
  "type": "amino-acid"
}