{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825648136",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 263,
          "referenceAllele": "M",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "NP_001121117.1:p.Met263Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16609707",
          "hgvs": "NM_001127645.2:c.789G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA362179904",
          "hgvs": "NM_001127645.2:c.789G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA362179905",
          "hgvs": "NM_001127645.2:c.789G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152133"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=389307[alleleid]",
        "alleleId": 389307,
        "preferredName": "NM_001127644.2(GABRA1):c.789G>A (p.Met263Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/402327",
        "RCV": [
          "RCV000454498"
        ],
        "variationId": 402327
      }
    ]
  },
  "type": "amino-acid"
}