{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA266805",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 322,
          "referenceAllele": "D",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NP_000160.1:p.Asp322Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA022225",
          "hgvs": "NM_000169.3:c.966C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA352266",
          "hgvs": "NM_000169.3:c.966C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146719"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=98480[alleleid]",
        "alleleId": 98480,
        "preferredName": "NM_000169.3(GLA):c.966C>G (p.Asp322Glu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=223862[alleleid]",
        "alleleId": 223862,
        "preferredName": "NM_000169.3(GLA):c.966C>A (p.Asp322Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/92572",
        "RCV": [
          "RCV000078304",
          "RCV002250557"
        ],
        "variationId": 92572
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/222459",
        "RCV": [
          "RCV000367678",
          "RCV000780289"
        ],
        "variationId": 222459
      }
    ]
  },
  "type": "amino-acid"
}