{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829447195",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 144,
          "referenceAllele": "D",
          "start": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NP_003352.2:p.Asp144Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7939448",
          "hgvs": "NM_003361.4:c.430G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169151"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1049392[alleleid]",
        "alleleId": 1049392,
        "preferredName": "NM_003361.4(UMOD):c.430G>A (p.Asp144Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1054905",
        "RCV": [
          "RCV001363496",
          "RCV002488112"
        ],
        "variationId": 1054905
      }
    ]
  },
  "type": "amino-acid"
}