{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825225280",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 120,
          "referenceAllele": "D",
          "start": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NP_000805.1:p.Asp120Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10586387",
          "hgvs": "NM_000814.6:c.358G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147319"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=248794[alleleid]",
        "alleleId": 248794,
        "preferredName": "NM_000814.6(GABRB3):c.358G>A (p.Asp120Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/254261",
        "RCV": [
          "RCV000240945",
          "RCV002274001",
          "RCV002518557",
          "RCV003322765"
        ],
        "variationId": 254261
      }
    ]
  },
  "type": "amino-acid"
}