{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916071594",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 153,
          "referenceAllele": "A",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "NP_116034.2:p.Ala153Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5976740",
          "hgvs": "NM_032645.5:c.457G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA915948198",
          "hgvs": "NM_032645.5:c.456_457delinsCT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179760"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=693058[alleleid]",
        "alleleId": 693058,
        "preferredName": "NM_005055.5(RAPSN):c.456_457delinsCT (p.Ala153Ser)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=868107[alleleid]",
        "alleleId": 868107,
        "preferredName": "NM_005055.5(RAPSN):c.457G>T (p.Ala153Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/703583",
        "RCV": [
          "RCV000873260"
        ],
        "variationId": 703583
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/878687",
        "RCV": [
          "RCV001105499",
          "RCV001105498",
          "RCV002558054",
          "RCV003142048"
        ],
        "variationId": 878687
      }
    ]
  },
  "type": "amino-acid"
}