{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915967181",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 228,
          "referenceAllele": "F",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "NP_001121077.1:p.Phe228Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5593637",
          "hgvs": "NM_001127605.3:c.683T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152122"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=490257[alleleid]",
        "alleleId": 490257,
        "preferredName": "NM_000235.4(LIPA):c.683T>C (p.Phe228Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/498833",
        "RCV": [
          "RCV000596849",
          "RCV000665538",
          "RCV001450065",
          "RCV003488716",
          "RCV004543344"
        ],
        "variationId": 498833
      }
    ]
  },
  "type": "amino-acid"
}