{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA279995",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 42,
          "referenceAllele": "L",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "NP_002746.1:p.Leu42Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA279993",
          "hgvs": "NM_002755.4:c.124C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168587"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=53754[alleleid]",
        "alleleId": 53754,
        "preferredName": "NM_002755.4(MAP2K1):c.124C>T (p.Leu42Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/44587",
        "RCV": [
          "RCV000037590",
          "RCV001582510",
          "RCV001787832",
          "RCV003539771"
        ],
        "variationId": 44587
      }
    ]
  },
  "type": "amino-acid"
}