{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580488182",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 48,
          "referenceAllele": "K",
          "start": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010380",
      "geneNCBI_id": 6183,
      "geneSymbol": "MRPS12",
      "hgvs": [
        "NP_203527.1:p.Lys48Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9423475",
          "hgvs": "NM_033363.1:c.144G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA405743436",
          "hgvs": "NM_033363.1:c.144G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180220"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2305699[alleleid]",
        "alleleId": 2305699,
        "preferredName": "NM_033362.4(MRPS12):c.144G>T (p.Lys48Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2326313",
        "RCV": [
          "RCV004167521"
        ],
        "variationId": 2326313
      }
    ]
  },
  "type": "amino-acid"
}