{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA112496",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1112,
          "referenceAllele": "P",
          "start": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023246",
      "geneNCBI_id": 84665,
      "geneSymbol": "MYPN",
      "hgvs": [
        "NP_001243196.1:p.Pro1112Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA143763",
          "hgvs": "NM_001256267.2:c.3335C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS159612"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=40451[alleleid]",
        "alleleId": 40451,
        "preferredName": "NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/31791",
        "RCV": [
          "RCV000024484",
          "RCV000043541",
          "RCV000043542",
          "RCV000157384",
          "RCV000250407",
          "RCV000183595",
          "RCV000852613"
        ],
        "variationId": 31791
      }
    ]
  },
  "type": "amino-acid"
}