{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA891846720",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 221,
          "referenceAllele": "D",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "NP_000226.2:p.Asp221Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5593658",
          "hgvs": "NM_000235.4:c.662A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146783"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=564048[alleleid]",
        "alleleId": 564048,
        "preferredName": "NM_000235.4(LIPA):c.662A>G (p.Asp221Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/568571",
        "RCV": [
          "RCV000730763",
          "RCV001450075",
          "RCV002360730",
          "RCV004535714",
          "RCV001080631"
        ],
        "variationId": 568571
      }
    ]
  },
  "type": "amino-acid"
}