{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573162870",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 42,
          "referenceAllele": "D",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003999",
      "geneNCBI_id": 2512,
      "geneSymbol": "FTL",
      "hgvs": [
        "NP_000137.2:p.Asp42Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA406756067",
          "hgvs": "NM_000146.4:c.124G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146696"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1507929[alleleid]",
        "alleleId": 1507929,
        "preferredName": "NM_000146.4(FTL):c.124G>A (p.Asp42Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1463366",
        "RCV": [
          "RCV001956619"
        ],
        "variationId": 1463366
      }
    ]
  },
  "type": "amino-acid"
}