{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645422494",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 252,
          "referenceAllele": "E",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006909",
      "geneNCBI_id": 4148,
      "geneSymbol": "MATN3",
      "hgvs": [
        "NP_002372.1:p.Glu252Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1543911",
          "hgvs": "NM_002381.5:c.754G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168234"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=250477[alleleid]",
        "alleleId": 250477,
        "preferredName": "NM_002381.5(MATN3):c.754G>A (p.Glu252Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/258648",
        "RCV": [
          "RCV000242199",
          "RCV000286603",
          "RCV001511395",
          "RCV002278176"
        ],
        "variationId": 258648
      }
    ]
  },
  "type": "amino-acid"
}