{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915967993",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 322,
          "referenceAllele": "A",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "NP_001121120.1:p.Ala322Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA214959",
          "hgvs": "NM_001127648.2:c.965C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152134"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31253[alleleid]",
        "alleleId": 31253,
        "preferredName": "NM_001127644.2(GABRA1):c.965C>A (p.Ala322Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16214",
        "RCV": [
          "RCV000017601"
        ],
        "variationId": 16214
      }
    ]
  },
  "type": "amino-acid"
}