{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915967235",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 295,
          "referenceAllele": "H",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "NP_001121077.1:p.His295Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA377516664",
          "hgvs": "NM_001127605.3:c.883C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152122"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=545667[alleleid]",
        "alleleId": 545667,
        "preferredName": "NM_000235.4(LIPA):c.883C>T (p.His295Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/556192",
        "RCV": [
          "RCV000672159"
        ],
        "variationId": 556192
      }
    ]
  },
  "type": "amino-acid"
}