{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829585841",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 516,
          "referenceAllele": "L",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010253",
      "geneNCBI_id": 9991,
      "geneSymbol": "PTBP3",
      "hgvs": [
        "NP_005147.3:p.Leu516Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5190258",
          "hgvs": "NM_005156.7:c.1546C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170810"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2243232[alleleid]",
        "alleleId": 2243232,
        "preferredName": "NM_001163788.4(PTBP3):c.1462C>T (p.Leu488Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2253385",
        "RCV": [
          "RCV004110120"
        ],
        "variationId": 2253385
      }
    ]
  },
  "type": "amino-acid"
}