{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA891845935",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 175,
          "referenceAllele": "D",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NP_000160.1:p.Asp175Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA333093898",
          "hgvs": "NM_000169.3:c.525C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA413928717",
          "hgvs": "NM_000169.3:c.525C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146719"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=573516[alleleid]",
        "alleleId": 573516,
        "preferredName": "NM_000169.3(GLA):c.525C>G (p.Asp175Glu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=849524[alleleid]",
        "alleleId": 849524,
        "preferredName": "NM_000169.3(GLA):c.525C>A (p.Asp175Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/573833",
        "RCV": [
          "RCV000695603",
          "RCV001546911",
          "RCV002334314",
          "RCV003411618"
        ],
        "variationId": 573833
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/835100",
        "RCV": [
          "RCV001035911",
          "RCV003372939"
        ],
        "variationId": 835100
      }
    ]
  },
  "type": "amino-acid"
}