{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA104958",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 347,
          "referenceAllele": "P",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010012",
      "geneNCBI_id": 6010,
      "geneSymbol": "RHO",
      "hgvs": [
        "NP_000530.1:p.Pro347Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA256662",
          "hgvs": "NM_000539.3:c.1040C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147074"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28053[alleleid]",
        "alleleId": 28053,
        "preferredName": "NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13014",
        "RCV": [
          "RCV000013888",
          "RCV000490027",
          "RCV000504743",
          "RCV001075874",
          "RCV000626702",
          "RCV003989284"
        ],
        "variationId": 13014
      }
    ]
  },
  "type": "amino-acid"
}