{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825814200",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 1247,
          "referenceAllele": "V",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NP_001136235.1:p.Val1247Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA182484",
          "hgvs": "NM_001142763.2:c.3739G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153522"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=174713[alleleid]",
        "alleleId": 174713,
        "preferredName": "NM_001384140.1(PCDH15):c.3724G>A (p.Val1242Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/178521",
        "RCV": [
          "RCV000155269",
          "RCV000892246",
          "RCV001106029",
          "RCV001273382"
        ],
        "variationId": 178521
      }
    ]
  },
  "type": "amino-acid"
}