{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA352738",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 290,
          "referenceAllele": "M",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NP_000160.1:p.Met290Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA352736",
          "hgvs": "NM_000169.3:c.870G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA352994",
          "hgvs": "NM_000169.3:c.870G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA413922636",
          "hgvs": "NM_000169.3:c.870G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146719"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=223884[alleleid]",
        "alleleId": 223884,
        "preferredName": "NM_000169.3(GLA):c.870G>C (p.Met290Ile)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=223885[alleleid]",
        "alleleId": 223885,
        "preferredName": "NM_000169.3(GLA):c.870G>A (p.Met290Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/222435",
        "RCV": [
          "RCV001205029",
          "RCV001781622"
        ],
        "variationId": 222435
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/222436",
        "RCV": [
          "RCV000733247",
          "RCV001280629"
        ],
        "variationId": 222436
      }
    ]
  },
  "type": "amino-acid"
}