{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828108659",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 270,
          "referenceAllele": "T",
          "start": 269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NP_001350672.1:p.Thr270Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4650600",
          "hgvs": "NM_001363743.1:c.809C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617954"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=679517[alleleid]",
        "alleleId": 679517,
        "preferredName": "NM_177924.5(ASAH1):c.1004C>T (p.Thr335Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/691802",
        "RCV": [
          "RCV000853062",
          "RCV001159010",
          "RCV004549916"
        ],
        "variationId": 691802
      }
    ]
  },
  "type": "amino-acid"
}