{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916004375",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 180,
          "referenceAllele": "T",
          "start": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003151",
      "geneNCBI_id": 1892,
      "geneSymbol": "ECHS1",
      "hgvs": [
        "NP_004083.3:p.Thr180Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5765729",
          "hgvs": "NM_004092.4:c.538A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169826"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=678970[alleleid]",
        "alleleId": 678970,
        "preferredName": "NM_004092.4(ECHS1):c.538A>G (p.Thr180Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/691284",
        "RCV": [
          "RCV000851532",
          "RCV001564785"
        ],
        "variationId": 691284
      }
    ]
  },
  "type": "amino-acid"
}