{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645400470",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 226,
          "referenceAllele": "M",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NP_004306.3:p.Met226Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4650763",
          "hgvs": "NM_004315.6:c.677T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170027"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=313525[alleleid]",
        "alleleId": 313525,
        "preferredName": "NM_177924.5(ASAH1):c.629T>C (p.Met210Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/362376",
        "RCV": [
          "RCV000275237",
          "RCV000656011",
          "RCV000710620",
          "RCV002523650",
          "RCV004549826",
          "RCV002509374"
        ],
        "variationId": 362376
      }
    ]
  },
  "type": "amino-acid"
}