{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA104721",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 257,
          "referenceAllele": "K",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "NP_000394.2:p.Lys257Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA340116",
          "hgvs": "NM_000403.4:c.770A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146946"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18718[alleleid]",
        "alleleId": 18718,
        "preferredName": "NM_001008216.2(GALE):c.770A>G (p.Lys257Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3679",
        "RCV": [
          "RCV000003864",
          "RCV000592410",
          "RCV000609606"
        ],
        "variationId": 3679
      }
    ]
  },
  "type": "amino-acid"
}