{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827546285",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 345,
          "referenceAllele": "L",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021575",
      "geneNCBI_id": 54806,
      "geneSymbol": "AHI1",
      "hgvs": [
        "NP_001337433.1:p.Leu345Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA247748",
          "hgvs": "NM_001350504.2:c.1033T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS634369"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=196042[alleleid]",
        "alleleId": 196042,
        "preferredName": "NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/198882",
        "RCV": [
          "RCV001155546",
          "RCV000250813",
          "RCV002517761",
          "RCV000724880",
          "RCV001206260"
        ],
        "variationId": 198882
      }
    ]
  },
  "type": "amino-acid"
}