{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916049899",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 121,
          "referenceAllele": "D",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014270",
      "geneNCBI_id": 57526,
      "geneSymbol": "PCDH19",
      "hgvs": [
        "NP_065817.2:p.Asp121His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA316284",
          "hgvs": "NM_020766.3:c.361G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177093"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=203947[alleleid]",
        "alleleId": 203947,
        "preferredName": "NM_001184880.2(PCDH19):c.361G>C (p.Asp121His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/206309",
        "RCV": [
          "RCV000188345"
        ],
        "variationId": 206309
      }
    ]
  },
  "type": "amino-acid"
}