{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825826813",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 344,
          "referenceAllele": "L",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NP_001136239.1:p.Leu344Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA177605",
          "hgvs": "NM_001142767.2:c.1030C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153526"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=174668[alleleid]",
        "alleleId": 174668,
        "preferredName": "NM_001384140.1(PCDH15):c.1141C>G (p.Leu381Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/164929",
        "RCV": [
          "RCV000151637",
          "RCV001835689",
          "RCV002516047"
        ],
        "variationId": 164929
      }
    ]
  },
  "type": "amino-acid"
}