{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA104181",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 125,
          "referenceAllele": "N",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "NP_061764.2:p.Asn125Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA314053",
          "hgvs": "NM_018941.4:c.374A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176482"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=202206[alleleid]",
        "alleleId": 202206,
        "preferredName": "NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/205207",
        "RCV": [
          "RCV000187142",
          "RCV000677331",
          "RCV000656837",
          "RCV001080578",
          "RCV001251946",
          "RCV002314707",
          "RCV003224205"
        ],
        "variationId": 205207
      }
    ]
  },
  "type": "amino-acid"
}