{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA277744",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 526,
          "referenceAllele": "P",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NP_063945.2:p.Pro526Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA277743",
          "hgvs": "NM_019892.6:c.1577C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176696"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214299[alleleid]",
        "alleleId": 214299,
        "preferredName": "NM_019892.6(INPP5E):c.1577C>T (p.Pro526Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217660",
        "RCV": [
          "RCV000201636",
          "RCV001376305",
          "RCV001775665"
        ],
        "variationId": 217660
      }
    ]
  },
  "type": "amino-acid"
}