{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2112660",
  "communityStandardTitle": [
    "NM_000784.4(CYP27A1):c.593C>T (p.Ser198Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1133206[alleleid]",
        "alleleId": 1133206,
        "preferredName": "NM_000784.4(CYP27A1):c.593C>T (p.Ser198Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1153225",
        "RCV": [
          "RCV001494848",
          "RCV002359106"
        ],
        "variationId": 1153225
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-219677091-C-T",
        "id": "2-219677091-C-T",
        "variant": "2:219677091 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.219677091C>T?assembly=hg19",
        "id": "chr2:g.219677091C>T"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.219677091_219677092delinsTG?assembly=hg19",
        "id": "chr2:g.219677091_219677092delinsTG"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.218812368C>T?assembly=hg38",
        "id": "chr2:g.218812368C>T"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.218812368_218812369delinsTG?assembly=hg38",
        "id": "chr2:g.218812368_218812369delinsTG"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/563736306",
        "rs": 563736306
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-219677091-C-T?dataset=gnomad_r2_1",
        "id": "2-219677091-C-T",
        "variant": "2:219677091 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-218812368-C-T?dataset=gnomad_r3",
        "id": "2-218812368-C-T",
        "variant": "2:218812368 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-218812368-C-T?dataset=gnomad_r4",
        "id": "2-218812368-C-T",
        "variant": "2:218812368 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 218812368,
          "referenceAllele": "C",
          "start": 218812367
        }
      ],
      "hgvs": [
        "NC_000002.12:g.218812368C>T",
        "CM000664.2:g.218812368C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 219677091,
          "referenceAllele": "C",
          "start": 219677090
        }
      ],
      "hgvs": [
        "NC_000002.11:g.219677091C>T",
        "CM000664.1:g.219677091C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 219385335,
          "referenceAllele": "C",
          "start": 219385334
        }
      ],
      "hgvs": [
        "NC_000002.10:g.219385335C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 35620,
          "referenceAllele": "C",
          "start": 35619
        }
      ],
      "hgvs": [
        "NG_007959.1:g.35620C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000727"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 629,
          "referenceAllele": "C",
          "start": 628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "ENST00000258415.9:c.593C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258415.4:p.Ser198Leu",
        "hgvsWellDefined": "ENSP00000258415.4:p.Ser198Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258415.9:c.593C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000784.4:c.593C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258415.4:p.Ser198Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000775.1:p.Ser198Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1020,
          "referenceAllele": "C",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "ENST00000258415.8:c.593C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258415.4:p.Ser198Leu",
        "hgvsWellDefined": "ENSP00000258415.4:p.Ser198Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250383"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 446,
          "referenceAllele": "C",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "ENST00000411688.1:c.311C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392671.1:p.Ser104Leu",
        "hgvsWellDefined": "ENSP00000392671.1:p.Ser104Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282268"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 432,
          "referenceAllele": "C",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "ENST00000445971.1:c.*54C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404945.1:n.*54C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 411,
          "referenceAllele": "C",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "ENST00000466602.1:n.411C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309935"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1027,
          "referenceAllele": "C",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "ENST00000494263.5:n.1027C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331239"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499234136",
      "coordinates": [
        {
          "allele": "T",
          "end": 1027,
          "referenceAllele": "C",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "NM_000784.3:c.593C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000775.1:p.Ser198Leu",
        "hgvsWellDefined": "NP_000775.1:p.Ser198Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006813"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 852,
          "referenceAllele": "C",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "XM_017003488.2:c.173C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858977.1:p.Ser58Leu",
        "hgvsWellDefined": "XP_016858977.1:p.Ser58Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559207"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499234136",
      "coordinates": [
        {
          "allele": "T",
          "end": 629,
          "referenceAllele": "C",
          "start": 628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "NM_000784.4:c.593C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000775.1:p.Ser198Leu",
        "hgvsWellDefined": "NP_000775.1:p.Ser198Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662578",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258415.9:c.593C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000784.4:c.593C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258415.4:p.Ser198Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000775.1:p.Ser198Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}