{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830311448",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 119,
          "referenceAllele": "E",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008157",
      "geneNCBI_id": 10280,
      "geneSymbol": "SIGMAR1",
      "hgvs": [
        "NP_671513.1:p.Glu119Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5035856",
          "hgvs": "NM_147157.3:c.355G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182120"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=861361[alleleid]",
        "alleleId": 861361,
        "preferredName": "NM_005866.4(SIGMAR1):c.448G>A (p.Glu150Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/873316",
        "RCV": [
          "RCV001095534",
          "RCV001856288"
        ],
        "variationId": 873316
      }
    ]
  },
  "type": "amino-acid"
}