{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827853681",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 390,
          "referenceAllele": "N",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NP_001341349.1:p.Asn390Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA138363",
          "hgvs": "NM_001354420.2:c.1169A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660408"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55602[alleleid]",
        "alleleId": 55602,
        "preferredName": "NM_001384140.1(PCDH15):c.1169A>G (p.Asn390Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/46437",
        "RCV": [
          "RCV000039696",
          "RCV001103159",
          "RCV001340857",
          "RCV001578652",
          "RCV001578651",
          "RCV003298077"
        ],
        "variationId": 46437
      }
    ]
  },
  "type": "amino-acid"
}