{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825645689",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 204,
          "referenceAllele": "A",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "NP_001121077.1:p.Ala204Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5593676",
          "hgvs": "NM_001127605.3:c.611C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152122"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1807400[alleleid]",
        "alleleId": 1807400,
        "preferredName": "NM_000235.4(LIPA):c.611C>T (p.Ala204Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1751719",
        "RCV": [
          "RCV002360267",
          "RCV003098145"
        ],
        "variationId": 1751719
      }
    ]
  },
  "type": "amino-acid"
}