{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830285334",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 1553,
          "referenceAllele": "E",
          "start": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026521",
      "geneNCBI_id": 125336,
      "geneSymbol": "LOXHD1",
      "hgvs": [
        "NP_653213.6:p.Glu1553Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8952316",
          "hgvs": "NM_144612.7:c.4657G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181656"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=879186[alleleid]",
        "alleleId": 879186,
        "preferredName": "NM_001384474.1(LOXHD1):c.4657G>A (p.Glu1553Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/891649",
        "RCV": [
          "RCV001127075",
          "RCV002556772",
          "RCV003246710"
        ],
        "variationId": 891649
      }
    ]
  },
  "type": "amino-acid"
}