{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827336159",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 471,
          "referenceAllele": "L",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028984",
      "geneNCBI_id": 9897,
      "geneSymbol": "WASHC5",
      "hgvs": [
        "NP_001317538.1:p.Leu471Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA251713",
          "hgvs": "NM_001330609.2:c.1413G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA343118",
          "hgvs": "NM_001330609.2:c.1413G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624521"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16201[alleleid]",
        "alleleId": 16201,
        "preferredName": "NM_014846.4(WASHC5):c.1857G>C (p.Leu619Phe)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=47611[alleleid]",
        "alleleId": 47611,
        "preferredName": "NM_014846.4(WASHC5):c.1857G>T (p.Leu619Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1162",
        "RCV": [
          "RCV000001221",
          "RCV001851527"
        ],
        "variationId": 1162
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39008",
        "RCV": [
          "RCV000032101",
          "RCV001847626"
        ],
        "variationId": 39008
      }
    ]
  },
  "type": "amino-acid"
}