{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825593405",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 255,
          "referenceAllele": "R",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001497",
      "geneNCBI_id": 8573,
      "geneSymbol": "CASK",
      "hgvs": [
        "NP_001119527.1:p.Arg255His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA251025",
          "hgvs": "NM_001126055.2:c.764G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151949"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=167935[alleleid]",
        "alleleId": 167935,
        "preferredName": "NM_001367721.1(CASK):c.764G>A (p.Arg255His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/158084",
        "RCV": [
          "RCV000145413",
          "RCV000494524",
          "RCV002247536",
          "RCV003764883"
        ],
        "variationId": 158084
      }
    ]
  },
  "type": "amino-acid"
}