{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580372184",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 16,
          "referenceAllele": "W",
          "start": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030590",
      "geneNCBI_id": 23585,
      "geneSymbol": "TMEM50A",
      "hgvs": [
        "NP_055128.1:p.Trp16Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA694345",
          "hgvs": "NM_014313.4:c.47G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173609"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2358625[alleleid]",
        "alleleId": 2358625,
        "preferredName": "NM_014313.4(TMEM50A):c.47G>T (p.Trp16Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2369800",
        "RCV": [
          "RCV004207499"
        ],
        "variationId": 2369800
      }
    ]
  },
  "type": "amino-acid"
}