{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658800362",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 51,
          "referenceAllele": "M",
          "start": 50
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NP_001017536.1:p.Met51Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6534113",
          "hgvs": "NM_001017536.2:c.152T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2580085458",
          "hgvs": "NM_001017536.2:c.152_153delinsCA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149078"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=331088[alleleid]",
        "alleleId": 331088,
        "preferredName": "NM_000376.3(VDR):c.2T>C (p.Met1Thr)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1972701[alleleid]",
        "alleleId": 1972701,
        "preferredName": "NM_000376.3(VDR):c.2_3inv (p.Met1Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/308887",
        "RCV": [
          "RCV000601968",
          "RCV000988816",
          "RCV001512350",
          "RCV003992273"
        ],
        "variationId": 308887
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1909890",
        "RCV": [
          "RCV002587605"
        ],
        "variationId": 1909890
      }
    ]
  },
  "type": "amino-acid"
}