{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580269142",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 126,
          "referenceAllele": "P",
          "start": 125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004583",
      "geneNCBI_id": 2901,
      "geneSymbol": "GRIK5",
      "hgvs": [
        "NP_002079.3:p.Pro126Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9468714",
          "hgvs": "NM_002088.4:c.376C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167964"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2467428[alleleid]",
        "alleleId": 2467428,
        "preferredName": "NM_002088.5(GRIK5):c.376C>A (p.Pro126Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2494974",
        "RCV": [
          "RCV004287044"
        ],
        "variationId": 2494974
      }
    ]
  },
  "type": "amino-acid"
}