{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA295436",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 421,
          "referenceAllele": "R",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019743",
      "geneNCBI_id": 29954,
      "geneSymbol": "POMT2",
      "hgvs": [
        "NP_037514.2:p.Arg421Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA295434",
          "hgvs": "NM_013382.7:c.1261C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173307"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=172251[alleleid]",
        "alleleId": 172251,
        "preferredName": "NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/162597",
        "RCV": [
          "RCV000594145",
          "RCV000699248",
          "RCV001004950",
          "RCV001731484",
          "RCV002498687",
          "RCV003474801"
        ],
        "variationId": 162597
      }
    ]
  },
  "type": "amino-acid"
}