{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825648199",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 325,
          "referenceAllele": "F",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004075",
      "geneNCBI_id": 2554,
      "geneSymbol": "GABRA1",
      "hgvs": [
        "NP_001121117.1:p.Phe325Leu"
      ],
      "matchingRegisteredTranscripts": [
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          "@id": "http://reg.genome.network/allele/CA16618158",
          "hgvs": "NM_001127645.2:c.973T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA362180322",
          "hgvs": "NM_001127645.2:c.975C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA362180323",
          "hgvs": "NM_001127645.2:c.975C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152133"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=406686[alleleid]",
        "alleleId": 406686,
        "preferredName": "NM_001127644.2(GABRA1):c.973T>C (p.Phe325Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1394145[alleleid]",
        "alleleId": 1394145,
        "preferredName": "NM_001127644.2(GABRA1):c.975C>A (p.Phe325Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/420752",
        "RCV": [
          "RCV000485352"
        ],
        "variationId": 420752
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1349381",
        "RCV": [
          "RCV002051050"
        ],
        "variationId": 1349381
      }
    ]
  },
  "type": "amino-acid"
}