{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826622391",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 144,
          "referenceAllele": "V",
          "start": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "NP_001268232.1:p.Val144Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA340288",
          "hgvs": "NM_001281303.2:c.431T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162075"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19840[alleleid]",
        "alleleId": 19840,
        "preferredName": "NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4801",
        "RCV": [
          "RCV000005068",
          "RCV000235837",
          "RCV001174070",
          "RCV001249799",
          "RCV002326664"
        ],
        "variationId": 4801
      }
    ]
  },
  "type": "amino-acid"
}