{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826877685",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 54,
          "referenceAllele": "P",
          "start": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "NP_001290039.1:p.Pro54Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA202302",
          "hgvs": "NM_001303110.2:c.161C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS165894"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=193488[alleleid]",
        "alleleId": 193488,
        "preferredName": "NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/196327",
        "RCV": [
          "RCV000177132",
          "RCV000378889",
          "RCV000677255",
          "RCV000877903",
          "RCV001171323",
          "RCV002247587"
        ],
        "variationId": 196327
      }
    ]
  },
  "type": "amino-acid"
}