{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA104591",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 181,
          "referenceAllele": "E",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010012",
      "geneNCBI_id": 6010,
      "geneSymbol": "RHO",
      "hgvs": [
        "NP_000530.1:p.Glu181Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA275168",
          "hgvs": "NM_000539.3:c.541G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147074"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=193443[alleleid]",
        "alleleId": 193443,
        "preferredName": "NM_000539.3(RHO):c.541G>A (p.Glu181Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/196282",
        "RCV": [
          "RCV000177081",
          "RCV000504731",
          "RCV000724301",
          "RCV001074893"
        ],
        "variationId": 196282
      }
    ]
  },
  "type": "amino-acid"
}