{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA104452",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 135,
          "referenceAllele": "R",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010012",
      "geneNCBI_id": 6010,
      "geneSymbol": "RHO",
      "hgvs": [
        "NP_000530.1:p.Arg135Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA256671",
          "hgvs": "NM_000539.3:c.404G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA10602881",
          "hgvs": "NM_000539.3:c.404_405delinsTT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147074"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28063[alleleid]",
        "alleleId": 28063,
        "preferredName": "NM_000539.3(RHO):c.404G>T (p.Arg135Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=264132[alleleid]",
        "alleleId": 264132,
        "preferredName": "NM_000539.3(RHO):c.404_405delinsTT (p.Arg135Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13024",
        "RCV": [
          "RCV000013898",
          "RCV000256085"
        ],
        "variationId": 13024
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/279882",
        "RCV": [
          "RCV000299725",
          "RCV001073685"
        ],
        "variationId": 279882
      }
    ]
  },
  "type": "amino-acid"
}