{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA116827",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 48,
          "referenceAllele": "N",
          "start": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012605",
      "geneNCBI_id": 7401,
      "geneSymbol": "CLRN1",
      "hgvs": [
        "NP_001182723.1:p.Asn48Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA116825",
          "hgvs": "NM_001195794.1:c.144T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA355011964",
          "hgvs": "NM_001195794.1:c.144T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157135"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19434[alleleid]",
        "alleleId": 19434,
        "preferredName": "NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4395",
        "RCV": [
          "RCV000004645",
          "RCV000504948",
          "RCV000489880",
          "RCV000844692",
          "RCV000999864",
          "RCV001073333",
          "RCV001273483",
          "RCV001824560",
          "RCV002504744",
          "RCV003466812"
        ],
        "variationId": 4395
      }
    ]
  },
  "type": "amino-acid"
}