{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA279448",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 388,
          "referenceAllele": "V",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NP_063945.2:p.Val388Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA279447",
          "hgvs": "NM_019892.6:c.1162G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA375564101",
          "hgvs": "NM_019892.6:c.1162G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176696"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214302[alleleid]",
        "alleleId": 214302,
        "preferredName": "NM_019892.6(INPP5E):c.1162G>T (p.Val388Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217663",
        "RCV": [
          "RCV000201647",
          "RCV001753604"
        ],
        "variationId": 217663
      }
    ]
  },
  "type": "amino-acid"
}