{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827855924",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 875,
          "referenceAllele": "S",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NP_001341358.1:p.Ser875Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5505972",
          "hgvs": "NM_001354429.2:c.2624C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625615"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1905453[alleleid]",
        "alleleId": 1905453,
        "preferredName": "NM_001384140.1(PCDH15):c.2624C>T (p.Ser875Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2163741",
        "RCV": [
          "RCV003086311",
          "RCV003092480",
          "RCV003230768",
          "RCV004536602"
        ],
        "variationId": 2163741
      }
    ]
  },
  "type": "amino-acid"
}