{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658655264",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 174,
          "referenceAllele": "S",
          "start": 173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "NP_443077.1:p.Ser174Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6778842",
          "hgvs": "NM_052845.4:c.521C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180365"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=438956[alleleid]",
        "alleleId": 438956,
        "preferredName": "NM_052845.4(MMAB):c.521C>T (p.Ser174Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/445684",
        "RCV": [
          "RCV000514970",
          "RCV000671507"
        ],
        "variationId": 445684
      }
    ]
  },
  "type": "amino-acid"
}