{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580351345",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 654,
          "referenceAllele": "T",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "NP_006787.2:p.Thr654Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA401946534",
          "hgvs": "NM_006796.3:c.1961C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172311"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2050371[alleleid]",
        "alleleId": 2050371,
        "preferredName": "NM_006796.3(AFG3L2):c.1961C>A (p.Thr654Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1998450",
        "RCV": [
          "RCV002796891"
        ],
        "variationId": 1998450
      }
    ]
  },
  "type": "amino-acid"
}