{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916071665",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 246,
          "referenceAllele": "A",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "NP_116034.2:p.Ala246Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA275256",
          "hgvs": "NM_032645.5:c.737C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179760"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=194409[alleleid]",
        "alleleId": 194409,
        "preferredName": "NM_005055.5(RAPSN):c.737C>T (p.Ala246Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/197248",
        "RCV": [
          "RCV000178236",
          "RCV001313406",
          "RCV003462285"
        ],
        "variationId": 197248
      }
    ]
  },
  "type": "amino-acid"
}