{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10020420",
  "communityStandardTitle": [
    "NM_001352514.2(HLCS):c.1938G>A (p.Ala646=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=728897[alleleid]",
        "alleleId": 728897,
        "preferredName": "NM_001352514.2(HLCS):c.1938G>A (p.Ala646=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/714417",
        "RCV": [
          "RCV000886720"
        ],
        "variationId": 714417
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/21-38139541-C-T",
        "id": "21-38139541-C-T",
        "variant": "21:38139541 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.38139541C>T?assembly=hg19",
        "id": "chr21:g.38139541C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.36767240C>T?assembly=hg38",
        "id": "chr21:g.36767240C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/370347318",
        "rs": 370347318
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-38139541-C-T?dataset=gnomad_r2_1",
        "id": "21-38139541-C-T",
        "variant": "21:38139541 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-36767240-C-T?dataset=gnomad_r3",
        "id": "21-36767240-C-T",
        "variant": "21:36767240 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-36767240-C-T?dataset=gnomad_r4",
        "id": "21-36767240-C-T",
        "variant": "21:36767240 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 36767240,
          "referenceAllele": "C",
          "start": 36767239
        }
      ],
      "hgvs": [
        "NC_000021.9:g.36767240C>T",
        "CM000683.2:g.36767240C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 38139541,
          "referenceAllele": "C",
          "start": 38139540
        }
      ],
      "hgvs": [
        "NC_000021.8:g.38139541C>T",
        "CM000683.1:g.38139541C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 37061411,
          "referenceAllele": "C",
          "start": 37061410
        }
      ],
      "hgvs": [
        "NC_000021.7:g.37061411C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 227996,
          "referenceAllele": "G",
          "start": 227995
        }
      ],
      "hgvs": [
        "NG_016193.1:g.227996G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002999"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 228155,
          "referenceAllele": "G",
          "start": 228154
        }
      ],
      "hgvs": [
        "NG_016193.2:g.228155G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616215"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1969,
          "referenceAllele": "G",
          "start": 1968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "ENST00000674895.3:c.1938G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502087.2:p.Ala646="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826898",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674895.3:c.1938G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001352514.2:c.1938G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502087.2:p.Ala646="
          },
          "RefSeq": {
            "hgvs": "NP_001339443.1:p.Ala646="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1969,
          "referenceAllele": "G",
          "start": 1968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "ENST00000674895.2:c.1497G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502087.1:p.Ala499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774785"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1820,
          "referenceAllele": "G",
          "start": 1819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "ENST00000675057.1:c.1497G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501832.1:p.Ala499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774931"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1892,
          "referenceAllele": "G",
          "start": 1891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "ENST00000675307.1:c.1497G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501750.1:p.Ala499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1968,
          "referenceAllele": "G",
          "start": 1967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "ENST00000336648.8:c.1497G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338387.3:p.Ala499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260338"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2728,
          "referenceAllele": "G",
          "start": 2727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "ENST00000399120.5:c.1497G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382071.1:p.Ala499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278551"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2070,
          "referenceAllele": "G",
          "start": 2069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "ENST00000612277.4:c.1497G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479939.1:p.Ala499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401237"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825164416",
      "coordinates": [
        {
          "allele": "A",
          "end": 1977,
          "referenceAllele": "G",
          "start": 1976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_000411.6:c.1497G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000402.3:p.Ala499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006473"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826304418",
      "coordinates": [
        {
          "allele": "A",
          "end": 2911,
          "referenceAllele": "G",
          "start": 2910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001242784.1:c.1497G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229713.1:p.Ala499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018238"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826304976",
      "coordinates": [
        {
          "allele": "A",
          "end": 2070,
          "referenceAllele": "G",
          "start": 2069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001242785.1:c.1497G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229714.1:p.Ala499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018239"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1939,
          "referenceAllele": "G",
          "start": 1938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_005260953.2:c.1938G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261010.1:p.Ala646="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1939,
          "referenceAllele": "G",
          "start": 1938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_005260954.1:c.1938G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261011.1:p.Ala646="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1810,
          "referenceAllele": "G",
          "start": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_005260955.2:c.1497G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261012.1:p.Ala499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062991"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1986,
          "referenceAllele": "G",
          "start": 1985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_005260956.2:c.1497G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261013.1:p.Ala499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062992"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1924,
          "referenceAllele": "G",
          "start": 1923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_006723994.1:c.1497G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724057.1:p.Ala499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075310"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2102,
          "referenceAllele": "G",
          "start": 2101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_006723995.1:c.1497G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724058.1:p.Ala499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1957,
          "referenceAllele": "G",
          "start": 1956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_011529538.1:c.1497G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527840.1:p.Ala499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096607"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1954,
          "referenceAllele": "G",
          "start": 1953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_011529539.1:c.1497G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527841.1:p.Ala499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096608"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1789,
          "referenceAllele": "G",
          "start": 1788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_011529541.1:c.1497G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527843.1:p.Ala499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825164416",
      "coordinates": [
        {
          "allele": "A",
          "end": 2126,
          "referenceAllele": "G",
          "start": 2125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_000411.7:c.1497G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000402.3:p.Ala499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510791"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826304418",
      "coordinates": [
        {
          "allele": "A",
          "end": 2945,
          "referenceAllele": "G",
          "start": 2944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001242784.2:c.1497G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229713.1:p.Ala499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511912"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826304976",
      "coordinates": [
        {
          "allele": "A",
          "end": 2100,
          "referenceAllele": "G",
          "start": 2099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001242785.2:c.1497G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229714.1:p.Ala499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827652087",
      "coordinates": [
        {
          "allele": "A",
          "end": 1990,
          "referenceAllele": "G",
          "start": 1989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352514.1:c.1938G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339443.1:p.Ala646="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520953"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827652544",
      "coordinates": [
        {
          "allele": "A",
          "end": 1980,
          "referenceAllele": "G",
          "start": 1979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352515.1:c.1497G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339444.1:p.Ala499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520954"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827653105",
      "coordinates": [
        {
          "allele": "A",
          "end": 2000,
          "referenceAllele": "G",
          "start": 1999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352516.1:c.1497G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339445.1:p.Ala499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520955"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827653666",
      "coordinates": [
        {
          "allele": "A",
          "end": 1954,
          "referenceAllele": "G",
          "start": 1953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352517.1:c.1497G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339446.1:p.Ala499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520956"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827654191",
      "coordinates": [
        {
          "allele": "A",
          "end": 1813,
          "referenceAllele": "G",
          "start": 1812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352518.1:c.1497G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339447.1:p.Ala499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520957"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1980,
          "referenceAllele": "G",
          "start": 1979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NR_148020.1:n.1980G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530994"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1954,
          "referenceAllele": "G",
          "start": 1953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NR_148021.1:n.1954G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530995"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1963,
          "referenceAllele": "G",
          "start": 1962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_011529539.3:c.1497G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527841.1:p.Ala499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1760,
          "referenceAllele": "G",
          "start": 1759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_017028330.1:c.1497G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883819.1:p.Ala499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578098"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1678,
          "referenceAllele": "G",
          "start": 1677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_024452065.1:c.1326G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307833.1:p.Ala442="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585569"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1743,
          "referenceAllele": "G",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_024452066.1:c.1326G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307834.1:p.Ala442="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585570"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1939,
          "referenceAllele": "G",
          "start": 1938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XR_001754835.1:n.1939G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600833"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1939,
          "referenceAllele": "G",
          "start": 1938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XR_001754836.1:n.1939G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600834"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1939,
          "referenceAllele": "G",
          "start": 1938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XR_001754837.2:n.1939G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600835"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1988,
          "referenceAllele": "G",
          "start": 1987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XR_001754840.1:n.1988G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600836"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825164416",
      "coordinates": [
        {
          "allele": "A",
          "end": 1943,
          "referenceAllele": "G",
          "start": 1942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_000411.8:c.1497G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000402.3:p.Ala499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674833"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826304418",
      "coordinates": [
        {
          "allele": "A",
          "end": 2924,
          "referenceAllele": "G",
          "start": 2923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001242784.3:c.1497G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229713.1:p.Ala499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680119"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827652087",
      "coordinates": [
        {
          "allele": "A",
          "end": 1969,
          "referenceAllele": "G",
          "start": 1968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352514.2:c.1938G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339443.1:p.Ala646="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689292",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674895.3:c.1938G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001352514.2:c.1938G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502087.2:p.Ala646="
          },
          "RefSeq": {
            "hgvs": "NP_001339443.1:p.Ala646="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827652544",
      "coordinates": [
        {
          "allele": "A",
          "end": 1797,
          "referenceAllele": "G",
          "start": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352515.2:c.1497G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339444.1:p.Ala499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689293"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827653105",
      "coordinates": [
        {
          "allele": "A",
          "end": 2000,
          "referenceAllele": "G",
          "start": 1999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352516.2:c.1497G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339445.1:p.Ala499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689294"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1797,
          "referenceAllele": "G",
          "start": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NR_148020.2:n.1797G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704672"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827654191",
      "coordinates": [
        {
          "allele": "A",
          "end": 1813,
          "referenceAllele": "G",
          "start": 1812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352518.2:c.1497G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339447.1:p.Ala499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720071"
    }
  ],
  "type": "nucleotide"
}