{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573070656",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 154,
          "referenceAllele": "A",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "NP_001317287.1:p.Ala154Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA595689",
          "hgvs": "NM_001330358.2:c.460G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622907"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1333768[alleleid]",
        "alleleId": 1333768,
        "preferredName": "NM_005957.5(MTHFR):c.337G>T (p.Ala113Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1342192",
        "RCV": [
          "RCV001838859"
        ],
        "variationId": 1342192
      }
    ]
  },
  "type": "amino-acid"
}