{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645426026",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 549,
          "referenceAllele": "M",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "NP_071751.3:p.Met549Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA801749",
          "hgvs": "NM_022356.4:c.1647G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA339954826",
          "hgvs": "NM_022356.4:c.1647G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA339954827",
          "hgvs": "NM_022356.4:c.1647G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177811"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=365254[alleleid]",
        "alleleId": 365254,
        "preferredName": "NM_022356.4(P3H1):c.1647G>A (p.Met549Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/379421",
        "RCV": [
          "RCV000441888",
          "RCV001095987",
          "RCV001095988"
        ],
        "variationId": 379421
      }
    ]
  },
  "type": "amino-acid"
}