{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16604118",
  "communityStandardTitle": [
    "NM_001079866.2(BCS1L):c.385G>A (p.Gly129Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=366362[alleleid]",
        "alleleId": 366362,
        "preferredName": "NM_001079866.2(BCS1L):c.385G>A (p.Gly129Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/381524",
        "RCV": [
          "RCV000432529",
          "RCV001329213",
          "RCV002285017"
        ],
        "variationId": 381524
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.219526193G>A?assembly=hg19",
        "id": "chr2:g.219526193G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.218661470G>A?assembly=hg38",
        "id": "chr2:g.218661470G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057521059",
        "rs": 1057521059
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-218661470-G-A?dataset=gnomad_r4",
        "id": "2-218661470-G-A",
        "variant": "2:218661470 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 218661470,
          "referenceAllele": "G",
          "start": 218661469
        }
      ],
      "hgvs": [
        "NC_000002.12:g.218661470G>A",
        "CM000664.2:g.218661470G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 219526193,
          "referenceAllele": "G",
          "start": 219526192
        }
      ],
      "hgvs": [
        "NC_000002.11:g.219526193G>A",
        "CM000664.1:g.219526193G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 219234437,
          "referenceAllele": "G",
          "start": 219234436
        }
      ],
      "hgvs": [
        "NC_000002.10:g.219234437G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6815,
          "referenceAllele": "G",
          "start": 6814
        }
      ],
      "hgvs": [
        "NG_008018.1:g.6815G>A",
        "LRG_539:g.6815G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000778"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3071,
          "referenceAllele": "C",
          "start": 3070
        }
      ],
      "hgvs": [
        "NG_033099.1:g.3071C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005426"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 495,
          "referenceAllele": "G",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000359273.8:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352219.3:p.Gly129Arg",
        "hgvsWellDefined": "ENSP00000352219.3:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749177",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359273.8:c.385G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001079866.2:c.385G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352219.3:p.Gly129Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001073335.1:p.Gly129Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 704,
          "referenceAllele": "G",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000392111.7:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375959.2:p.Gly129Arg",
        "hgvsWellDefined": "ENSP00000375959.2:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752967"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 792,
          "referenceAllele": "G",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000643945.1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496514.1:p.Gly129Arg",
        "hgvsWellDefined": "ENSP00000496514.1:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 522,
          "referenceAllele": "G",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000359273.7:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352219.3:p.Gly129Arg",
        "hgvsWellDefined": "ENSP00000352219.3:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264738"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 651,
          "referenceAllele": "G",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000392109.5:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375957.1:p.Gly129Arg",
        "hgvsWellDefined": "ENSP00000375957.1:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274926"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 594,
          "referenceAllele": "G",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000392110.6:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375958.2:p.Gly129Arg",
        "hgvsWellDefined": "ENSP00000375958.2:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274927"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "G",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000392111.6:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375959.2:p.Gly129Arg",
        "hgvsWellDefined": "ENSP00000375959.2:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 498,
          "referenceAllele": "G",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000412366.5:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406494.1:p.Gly129Arg",
        "hgvsWellDefined": "ENSP00000406494.1:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282575"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 803,
          "referenceAllele": "G",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000430322.5:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398957.1:p.Gly129Arg",
        "hgvsWellDefined": "ENSP00000398957.1:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291088"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1084,
          "referenceAllele": "G",
          "start": 1083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000431802.5:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413908.1:p.Gly129Arg",
        "hgvsWellDefined": "ENSP00000413908.1:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291787"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 590,
          "referenceAllele": "G",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000439945.5:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404999.1:p.Gly129Arg",
        "hgvsWellDefined": "ENSP00000404999.1:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295653"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 153,
          "referenceAllele": "G",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000443791.5:c.25G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412729.1:p.Gly9Arg",
        "hgvsWellDefined": "ENSP00000412729.1:p.Gly9Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297511"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 582,
          "referenceAllele": "G",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000456050.5:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395440.1:p.Gly129Arg",
        "hgvsWellDefined": "ENSP00000395440.1:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303316"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 407,
          "referenceAllele": "G",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000471576.5:n.407G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313745"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 506,
          "referenceAllele": "G",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000493376.1:n.506G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330537"
    },
    {
      "@id": "http://reg.genome.network/allele/PA097340",
      "coordinates": [
        {
          "allele": "A",
          "end": 522,
          "referenceAllele": "G",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001079866.1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073335.1:p.Gly129Arg",
        "hgvsWellDefined": "NP_001073335.1:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826440034",
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "G",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001257342.1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244271.1:p.Gly129Arg",
        "hgvsWellDefined": "NP_001244271.1:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019606"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826440840",
      "coordinates": [
        {
          "allele": "A",
          "end": 704,
          "referenceAllele": "G",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001257343.1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244272.1:p.Gly129Arg",
        "hgvsWellDefined": "NP_001244272.1:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826441433",
      "coordinates": [
        {
          "allele": "A",
          "end": 579,
          "referenceAllele": "G",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001257344.1:c.385G>A",
        "LRG_539t2:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244273.1:p.Gly129Arg",
        "hgvsWellDefined": "NP_001244273.1:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019608"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645486437",
      "coordinates": [
        {
          "allele": "A",
          "end": 731,
          "referenceAllele": "G",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_004328.4:c.385G>A",
        "LRG_539t1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004319.1:p.Gly129Arg",
        "hgvsWellDefined": "NP_004319.1:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029497"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1079,
          "referenceAllele": "G",
          "start": 1078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XM_005246747.3:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246804.1:p.Gly129Arg",
        "hgvsWellDefined": "XP_005246804.1:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 191,
          "referenceAllele": "G",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XM_005246748.1:c.-92G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246805.1:n.-92G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057773"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 80,
          "endIntronDirection": "-",
          "endIntronOffset": 288,
          "referenceAllele": "G",
          "start": 80,
          "startIntronDirection": "-",
          "startIntronOffset": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XM_005246749.3:c.-41-289G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246806.1:n.-41-289G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057774"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1137,
          "referenceAllele": "G",
          "start": 1136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XM_006712678.1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712741.1:p.Gly129Arg",
        "hgvsWellDefined": "XP_006712741.1:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069766"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 611,
          "referenceAllele": "G",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XM_011511587.1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509889.1:p.Gly129Arg",
        "hgvsWellDefined": "XP_011509889.1:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078848"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 148,
          "referenceAllele": "G",
          "start": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XM_011511588.1:c.25G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509890.1:p.Gly9Arg",
        "hgvsWellDefined": "XP_011509890.1:p.Gly9Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078849"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1327,
          "referenceAllele": "G",
          "start": 1326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XR_427105.1:n.1327G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916024059",
      "coordinates": [
        {
          "allele": "A",
          "end": 153,
          "referenceAllele": "G",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001318836.1:c.25G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305765.1:p.Gly9Arg",
        "hgvsWellDefined": "NP_001305765.1:p.Gly9Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513071"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827054597",
      "coordinates": [
        {
          "allele": "A",
          "end": 694,
          "referenceAllele": "G",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001320717.1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307646.1:p.Gly129Arg",
        "hgvsWellDefined": "NP_001307646.1:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513754"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1131,
          "referenceAllele": "G",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XM_005246748.3:c.-92G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246805.1:n.-92G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 893,
          "referenceAllele": "G",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XM_017004631.1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860120.1:p.Gly129Arg",
        "hgvsWellDefined": "XP_016860120.1:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560093"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 618,
          "referenceAllele": "G",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XM_017004632.1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860121.1:p.Gly129Arg",
        "hgvsWellDefined": "XP_016860121.1:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560094"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1397,
          "referenceAllele": "G",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XM_017004633.2:c.-92G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860122.1:n.-92G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560095"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 461,
          "referenceAllele": "G",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XM_017004634.2:c.-92G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860123.1:n.-92G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560096"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1397,
          "referenceAllele": "G",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XR_427105.3:n.1397G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA097340",
      "coordinates": [
        {
          "allele": "A",
          "end": 495,
          "referenceAllele": "G",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001079866.2:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073335.1:p.Gly129Arg",
        "hgvsWellDefined": "NP_001073335.1:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676231",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359273.8:c.385G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001079866.2:c.385G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352219.3:p.Gly129Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001073335.1:p.Gly129Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826440034",
      "coordinates": [
        {
          "allele": "A",
          "end": 625,
          "referenceAllele": "G",
          "start": 624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001257342.2:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244271.1:p.Gly129Arg",
        "hgvsWellDefined": "NP_001244271.1:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680721"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826440840",
      "coordinates": [
        {
          "allele": "A",
          "end": 677,
          "referenceAllele": "G",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001257343.2:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244272.1:p.Gly129Arg",
        "hgvsWellDefined": "NP_001244272.1:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680722"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826441433",
      "coordinates": [
        {
          "allele": "A",
          "end": 552,
          "referenceAllele": "G",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001257344.2:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244273.1:p.Gly129Arg",
        "hgvsWellDefined": "NP_001244273.1:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680723"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916024059",
      "coordinates": [
        {
          "allele": "A",
          "end": 126,
          "referenceAllele": "G",
          "start": 125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001318836.2:c.25G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305765.1:p.Gly9Arg",
        "hgvsWellDefined": "NP_001305765.1:p.Gly9Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684623"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827054597",
      "coordinates": [
        {
          "allele": "A",
          "end": 667,
          "referenceAllele": "G",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001320717.2:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307646.1:p.Gly129Arg",
        "hgvsWellDefined": "NP_001307646.1:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828487740",
      "coordinates": [
        {
          "allele": "A",
          "end": 610,
          "referenceAllele": "G",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371443.1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358372.1:p.Gly129Arg",
        "hgvsWellDefined": "NP_001358372.1:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692910"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828488047",
      "coordinates": [
        {
          "allele": "A",
          "end": 880,
          "referenceAllele": "G",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371444.1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358373.1:p.Gly129Arg",
        "hgvsWellDefined": "NP_001358373.1:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692911"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828488357",
      "coordinates": [
        {
          "allele": "A",
          "end": 1500,
          "referenceAllele": "G",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371446.1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358375.1:p.Gly129Arg",
        "hgvsWellDefined": "NP_001358375.1:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828488666",
      "coordinates": [
        {
          "allele": "A",
          "end": 477,
          "referenceAllele": "G",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371447.1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358376.1:p.Gly129Arg",
        "hgvsWellDefined": "NP_001358376.1:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828488973",
      "coordinates": [
        {
          "allele": "A",
          "end": 678,
          "referenceAllele": "G",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371448.1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358377.1:p.Gly129Arg",
        "hgvsWellDefined": "NP_001358377.1:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692915"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828489281",
      "coordinates": [
        {
          "allele": "A",
          "end": 792,
          "referenceAllele": "G",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371449.1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358378.1:p.Gly129Arg",
        "hgvsWellDefined": "NP_001358378.1:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692916"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828489590",
      "coordinates": [
        {
          "allele": "A",
          "end": 1173,
          "referenceAllele": "G",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371450.1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358379.1:p.Gly129Arg",
        "hgvsWellDefined": "NP_001358379.1:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692917"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139743085",
      "coordinates": [
        {
          "allele": "A",
          "end": 1131,
          "referenceAllele": "G",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371451.1:c.25G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358380.1:p.Gly9Arg",
        "hgvsWellDefined": "NP_001358380.1:p.Gly9Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692918"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 61,
          "endIntronDirection": "-",
          "endIntronOffset": 288,
          "referenceAllele": "G",
          "start": 61,
          "startIntronDirection": "-",
          "startIntronOffset": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371452.1:c.-41-289G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358381.1:n.-41-289G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692919"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1397,
          "referenceAllele": "G",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371453.1:c.-92G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358382.1:n.-92G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692920"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1173,
          "referenceAllele": "G",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371454.1:c.-92G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358383.1:n.-92G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692921"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 495,
          "referenceAllele": "G",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371455.1:c.-92G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358384.1:n.-92G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692922"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 625,
          "referenceAllele": "G",
          "start": 624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371456.1:c.-92G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358385.1:n.-92G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692923"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828472808",
      "coordinates": [
        {
          "allele": "A",
          "end": 1690,
          "referenceAllele": "G",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001374085.1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361014.1:p.Gly129Arg",
        "hgvsWellDefined": "NP_001361014.1:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693181"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1690,
          "referenceAllele": "G",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001374086.1:c.-92G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361015.1:n.-92G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645486437",
      "coordinates": [
        {
          "allele": "A",
          "end": 704,
          "referenceAllele": "G",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_004328.5:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004319.1:p.Gly129Arg",
        "hgvsWellDefined": "NP_004319.1:p.Gly129Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696107"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1397,
          "referenceAllele": "G",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NR_163955.1:n.1397G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705640"
    }
  ],
  "type": "nucleotide"
}