{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA213229",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 374,
          "referenceAllele": "V",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018060",
      "geneNCBI_id": 170302,
      "geneSymbol": "ARX",
      "hgvs": [
        "NP_620689.1:p.Val374Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA213228",
          "hgvs": "NM_139058.3:c.1121T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181488"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=167588[alleleid]",
        "alleleId": 167588,
        "preferredName": "NM_139058.3(ARX):c.1121T>A (p.Val374Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/157740",
        "RCV": [
          "RCV000145039"
        ],
        "variationId": 157740
      }
    ]
  },
  "type": "amino-acid"
}