{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580333456",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 181,
          "referenceAllele": "N",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006967",
      "geneNCBI_id": 4188,
      "geneSymbol": "MDFI",
      "hgvs": [
        "NP_005577.1:p.Asn181Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA364077546",
          "hgvs": "NM_005586.4:c.541A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171209"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2235290[alleleid]",
        "alleleId": 2235290,
        "preferredName": "NM_005586.4(MDFI):c.541A>G (p.Asn181Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2250623",
        "RCV": [
          "RCV004107327"
        ],
        "variationId": 2250623
      }
    ]
  },
  "type": "amino-acid"
}