{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10020615",
  "communityStandardTitle": [
    "NM_001352514.2(HLCS):c.1237A>C (p.Thr413Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1450371[alleleid]",
        "alleleId": 1450371,
        "preferredName": "NM_001352514.2(HLCS):c.1237A>C (p.Thr413Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1399075",
        "RCV": [
          "RCV001922722"
        ],
        "variationId": 1399075
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/21-38308949-T-G",
        "id": "21-38308949-T-G",
        "variant": "21:38308949 T / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.38308949T>G?assembly=hg19",
        "id": "chr21:g.38308949T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.36936649T>G?assembly=hg38",
        "id": "chr21:g.36936649T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/747122714",
        "rs": 747122714
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-38308949-T-G?dataset=gnomad_r2_1",
        "id": "21-38308949-T-G",
        "variant": "21:38308949 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-36936649-T-G?dataset=gnomad_r3",
        "id": "21-36936649-T-G",
        "variant": "21:36936649 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-36936649-T-G?dataset=gnomad_r4",
        "id": "21-36936649-T-G",
        "variant": "21:36936649 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 36936649,
          "referenceAllele": "T",
          "start": 36936648
        }
      ],
      "hgvs": [
        "NC_000021.9:g.36936649T>G",
        "CM000683.2:g.36936649T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 38308949,
          "referenceAllele": "T",
          "start": 38308948
        }
      ],
      "hgvs": [
        "NC_000021.8:g.38308949T>G",
        "CM000683.1:g.38308949T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 37230819,
          "referenceAllele": "T",
          "start": 37230818
        }
      ],
      "hgvs": [
        "NC_000021.7:g.37230819T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 58588,
          "referenceAllele": "A",
          "start": 58587
        }
      ],
      "hgvs": [
        "NG_016193.1:g.58588A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002999"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 58746,
          "referenceAllele": "A",
          "start": 58745
        }
      ],
      "hgvs": [
        "NG_016193.2:g.58746A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616215"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1268,
          "referenceAllele": "A",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "ENST00000674895.3:c.1237A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502087.2:p.Thr413Pro",
        "hgvsWellDefined": "ENSP00000502087.2:p.Thr413Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826898",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674895.3:c.1237A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001352514.2:c.1237A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502087.2:p.Thr413Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001339443.1:p.Thr413Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1268,
          "referenceAllele": "A",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "ENST00000674895.2:c.796A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502087.1:p.Thr266Pro",
        "hgvsWellDefined": "ENSP00000502087.1:p.Thr266Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1119,
          "referenceAllele": "A",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "ENST00000675057.1:c.796A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501832.1:p.Thr266Pro",
        "hgvsWellDefined": "ENSP00000501832.1:p.Thr266Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774931"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1191,
          "referenceAllele": "A",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "ENST00000675307.1:c.796A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501750.1:p.Thr266Pro",
        "hgvsWellDefined": "ENSP00000501750.1:p.Thr266Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775144"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1267,
          "referenceAllele": "A",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "ENST00000336648.8:c.796A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338387.3:p.Thr266Pro",
        "hgvsWellDefined": "ENSP00000338387.3:p.Thr266Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260338"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2027,
          "referenceAllele": "A",
          "start": 2026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "ENST00000399120.5:c.796A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382071.1:p.Thr266Pro",
        "hgvsWellDefined": "ENSP00000382071.1:p.Thr266Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278551"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1369,
          "referenceAllele": "A",
          "start": 1368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "ENST00000612277.4:c.796A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479939.1:p.Thr266Pro",
        "hgvsWellDefined": "ENSP00000479939.1:p.Thr266Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401237"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825164212",
      "coordinates": [
        {
          "allele": "C",
          "end": 1276,
          "referenceAllele": "A",
          "start": 1275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_000411.6:c.796A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000402.3:p.Thr266Pro",
        "hgvsWellDefined": "NP_000402.3:p.Thr266Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006473"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826304258",
      "coordinates": [
        {
          "allele": "C",
          "end": 2210,
          "referenceAllele": "A",
          "start": 2209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001242784.1:c.796A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229713.1:p.Thr266Pro",
        "hgvsWellDefined": "NP_001229713.1:p.Thr266Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018238"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826304816",
      "coordinates": [
        {
          "allele": "C",
          "end": 1369,
          "referenceAllele": "A",
          "start": 1368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001242785.1:c.796A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229714.1:p.Thr266Pro",
        "hgvsWellDefined": "NP_001229714.1:p.Thr266Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018239"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1238,
          "referenceAllele": "A",
          "start": 1237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_005260953.2:c.1237A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261010.1:p.Thr413Pro",
        "hgvsWellDefined": "XP_005261010.1:p.Thr413Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062989"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1238,
          "referenceAllele": "A",
          "start": 1237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_005260954.1:c.1237A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261011.1:p.Thr413Pro",
        "hgvsWellDefined": "XP_005261011.1:p.Thr413Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062990"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1109,
          "referenceAllele": "A",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_005260955.2:c.796A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261012.1:p.Thr266Pro",
        "hgvsWellDefined": "XP_005261012.1:p.Thr266Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062991"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1285,
          "referenceAllele": "A",
          "start": 1284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_005260956.2:c.796A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261013.1:p.Thr266Pro",
        "hgvsWellDefined": "XP_005261013.1:p.Thr266Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062992"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1223,
          "referenceAllele": "A",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_006723994.1:c.796A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724057.1:p.Thr266Pro",
        "hgvsWellDefined": "XP_006724057.1:p.Thr266Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075310"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1401,
          "referenceAllele": "A",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_006723995.1:c.796A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724058.1:p.Thr266Pro",
        "hgvsWellDefined": "XP_006724058.1:p.Thr266Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075311"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1256,
          "referenceAllele": "A",
          "start": 1255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_011529538.1:c.796A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527840.1:p.Thr266Pro",
        "hgvsWellDefined": "XP_011527840.1:p.Thr266Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1253,
          "referenceAllele": "A",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_011529539.1:c.796A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527841.1:p.Thr266Pro",
        "hgvsWellDefined": "XP_011527841.1:p.Thr266Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096608"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1238,
          "referenceAllele": "A",
          "start": 1237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_011529540.1:c.1237A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527842.1:p.Thr413Pro",
        "hgvsWellDefined": "XP_011527842.1:p.Thr413Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096609"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1088,
          "referenceAllele": "A",
          "start": 1087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_011529541.1:c.796A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527843.1:p.Thr266Pro",
        "hgvsWellDefined": "XP_011527843.1:p.Thr266Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096610"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1238,
          "referenceAllele": "A",
          "start": 1237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_011529542.1:c.1237A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527844.1:p.Thr413Pro",
        "hgvsWellDefined": "XP_011527844.1:p.Thr413Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096611"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825164212",
      "coordinates": [
        {
          "allele": "C",
          "end": 1425,
          "referenceAllele": "A",
          "start": 1424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_000411.7:c.796A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000402.3:p.Thr266Pro",
        "hgvsWellDefined": "NP_000402.3:p.Thr266Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510791"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826304258",
      "coordinates": [
        {
          "allele": "C",
          "end": 2244,
          "referenceAllele": "A",
          "start": 2243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001242784.2:c.796A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229713.1:p.Thr266Pro",
        "hgvsWellDefined": "NP_001229713.1:p.Thr266Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511912"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826304816",
      "coordinates": [
        {
          "allele": "C",
          "end": 1399,
          "referenceAllele": "A",
          "start": 1398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001242785.2:c.796A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229714.1:p.Thr266Pro",
        "hgvsWellDefined": "NP_001229714.1:p.Thr266Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573205113",
      "coordinates": [
        {
          "allele": "C",
          "end": 1289,
          "referenceAllele": "A",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352514.1:c.1237A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339443.1:p.Thr413Pro",
        "hgvsWellDefined": "NP_001339443.1:p.Thr413Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520953"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827652384",
      "coordinates": [
        {
          "allele": "C",
          "end": 1279,
          "referenceAllele": "A",
          "start": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352515.1:c.796A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339444.1:p.Thr266Pro",
        "hgvsWellDefined": "NP_001339444.1:p.Thr266Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520954"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827652945",
      "coordinates": [
        {
          "allele": "C",
          "end": 1299,
          "referenceAllele": "A",
          "start": 1298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352516.1:c.796A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339445.1:p.Thr266Pro",
        "hgvsWellDefined": "NP_001339445.1:p.Thr266Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520955"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827653506",
      "coordinates": [
        {
          "allele": "C",
          "end": 1253,
          "referenceAllele": "A",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352517.1:c.796A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339446.1:p.Thr266Pro",
        "hgvsWellDefined": "NP_001339446.1:p.Thr266Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520956"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827654029",
      "coordinates": [
        {
          "allele": "C",
          "end": 1112,
          "referenceAllele": "A",
          "start": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352518.1:c.796A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339447.1:p.Thr266Pro",
        "hgvsWellDefined": "NP_001339447.1:p.Thr266Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520957"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1279,
          "referenceAllele": "A",
          "start": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NR_148020.1:n.1279A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530994"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1253,
          "referenceAllele": "A",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NR_148021.1:n.1253A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530995"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1262,
          "referenceAllele": "A",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_011529539.3:c.796A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527841.1:p.Thr266Pro",
        "hgvsWellDefined": "XP_011527841.1:p.Thr266Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549542"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1238,
          "referenceAllele": "A",
          "start": 1237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_011529540.2:c.1237A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527842.1:p.Thr413Pro",
        "hgvsWellDefined": "XP_011527842.1:p.Thr413Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549543"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1059,
          "referenceAllele": "A",
          "start": 1058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_017028330.1:c.796A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883819.1:p.Thr266Pro",
        "hgvsWellDefined": "XP_016883819.1:p.Thr266Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578098"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 977,
          "referenceAllele": "A",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_024452065.1:c.625A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307833.1:p.Thr209Pro",
        "hgvsWellDefined": "XP_024307833.1:p.Thr209Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585569"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1042,
          "referenceAllele": "A",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_024452066.1:c.625A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307834.1:p.Thr209Pro",
        "hgvsWellDefined": "XP_024307834.1:p.Thr209Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585570"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1238,
          "referenceAllele": "A",
          "start": 1237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XR_001754835.1:n.1238A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600833"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1238,
          "referenceAllele": "A",
          "start": 1237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XR_001754836.1:n.1238A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600834"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1238,
          "referenceAllele": "A",
          "start": 1237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XR_001754837.2:n.1238A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600835"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1238,
          "referenceAllele": "A",
          "start": 1237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XR_001754840.1:n.1238A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600836"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825164212",
      "coordinates": [
        {
          "allele": "C",
          "end": 1242,
          "referenceAllele": "A",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_000411.8:c.796A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000402.3:p.Thr266Pro",
        "hgvsWellDefined": "NP_000402.3:p.Thr266Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674833"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826304258",
      "coordinates": [
        {
          "allele": "C",
          "end": 2223,
          "referenceAllele": "A",
          "start": 2222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001242784.3:c.796A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229713.1:p.Thr266Pro",
        "hgvsWellDefined": "NP_001229713.1:p.Thr266Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680119"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573205113",
      "coordinates": [
        {
          "allele": "C",
          "end": 1268,
          "referenceAllele": "A",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352514.2:c.1237A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339443.1:p.Thr413Pro",
        "hgvsWellDefined": "NP_001339443.1:p.Thr413Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689292",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674895.3:c.1237A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001352514.2:c.1237A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502087.2:p.Thr413Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001339443.1:p.Thr413Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827652384",
      "coordinates": [
        {
          "allele": "C",
          "end": 1096,
          "referenceAllele": "A",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352515.2:c.796A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339444.1:p.Thr266Pro",
        "hgvsWellDefined": "NP_001339444.1:p.Thr266Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689293"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827652945",
      "coordinates": [
        {
          "allele": "C",
          "end": 1299,
          "referenceAllele": "A",
          "start": 1298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352516.2:c.796A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339445.1:p.Thr266Pro",
        "hgvsWellDefined": "NP_001339445.1:p.Thr266Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689294"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1096,
          "referenceAllele": "A",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NR_148020.2:n.1096A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704672"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827654029",
      "coordinates": [
        {
          "allele": "C",
          "end": 1112,
          "referenceAllele": "A",
          "start": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352518.2:c.796A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339447.1:p.Thr266Pro",
        "hgvsWellDefined": "NP_001339447.1:p.Thr266Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720071"
    }
  ],
  "type": "nucleotide"
}