{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA347039",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 87,
          "referenceAllele": "G",
          "start": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "NP_000226.2:p.Gly87Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA347038",
          "hgvs": "NM_000235.4:c.260G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146783"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=94353[alleleid]",
        "alleleId": 94353,
        "preferredName": "NM_000235.4(LIPA):c.260G>T (p.Gly87Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/88770",
        "RCV": [
          "RCV000191997",
          "RCV001269917",
          "RCV001376576",
          "RCV003987346"
        ],
        "variationId": 88770
      }
    ]
  },
  "type": "amino-acid"
}