{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA314665",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 90,
          "referenceAllele": "D",
          "start": 89
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "NP_000797.2:p.Asp90His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA314664",
          "hgvs": "NM_000806.5:c.268G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147311"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=201855[alleleid]",
        "alleleId": 201855,
        "preferredName": "NM_001127644.2(GABRA1):c.268G>C (p.Asp90His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/205517",
        "RCV": [
          "RCV000187494"
        ],
        "variationId": 205517
      }
    ]
  },
  "type": "amino-acid"
}