{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3067930",
  "communityStandardTitle": [
    "NM_001384125.1(BLTP1):c.12154T>C (p.Tyr4052His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=680097[alleleid]",
        "alleleId": 680097,
        "preferredName": "NM_001384125.1(BLTP1):c.12154T>C (p.Tyr4052His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/692319",
        "RCV": [
          "RCV000855517"
        ],
        "variationId": 692319
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-123257388-T-C",
        "id": "4-123257388-T-C",
        "variant": "4:123257388 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.123257388T>C?assembly=hg19",
        "id": "chr4:g.123257388T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.122336233T>C?assembly=hg38",
        "id": "chr4:g.122336233T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/777407076",
        "rs": 777407076
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-123257388-T-C?dataset=gnomad_r2_1",
        "id": "4-123257388-T-C",
        "variant": "4:123257388 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-122336233-T-C?dataset=gnomad_r4",
        "id": "4-122336233-T-C",
        "variant": "4:122336233 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 122336233,
          "referenceAllele": "T",
          "start": 122336232
        }
      ],
      "hgvs": [
        "NC_000004.12:g.122336233T>C",
        "CM000666.2:g.122336233T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 123257388,
          "referenceAllele": "T",
          "start": 123257387
        }
      ],
      "hgvs": [
        "NC_000004.11:g.123257388T>C",
        "CM000666.1:g.123257388T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 123476838,
          "referenceAllele": "T",
          "start": 123476837
        }
      ],
      "hgvs": [
        "NC_000004.10:g.123476838T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 170631,
          "referenceAllele": "T",
          "start": 170630
        }
      ],
      "hgvs": [
        "NG_015813.1:g.170631T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002845"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 170631,
          "referenceAllele": "T",
          "start": 170630
        }
      ],
      "hgvs": [
        "NG_015813.2:g.170631T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673643"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12120,
          "referenceAllele": "T",
          "start": 12119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "ENST00000388738.8:c.11797T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373390.4:p.Tyr3933His",
        "hgvsWellDefined": "ENSP00000373390.4:p.Tyr3933His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824433"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15965,
          "referenceAllele": "T",
          "start": 15964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "ENST00000684987.1:n.15965T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829826"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3800,
          "referenceAllele": "T",
          "start": 3799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "ENST00000686093.1:c.3800T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509672.1:n.3800T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830396"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2452,
          "referenceAllele": "T",
          "start": 2451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "ENST00000686836.1:c.2452T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510157.1:p.Tyr818His",
        "hgvsWellDefined": "ENSP00000510157.1:p.Tyr818His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830770"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2955,
          "referenceAllele": "T",
          "start": 2954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "ENST00000688248.1:c.2955T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831522"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2452,
          "referenceAllele": "T",
          "start": 2451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "ENST00000688823.1:n.2452T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12120,
          "referenceAllele": "T",
          "start": 12119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "ENST00000690536.1:n.12120T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832748"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12120,
          "referenceAllele": "T",
          "start": 12119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "ENST00000693334.1:n.12120T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834192"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12120,
          "referenceAllele": "T",
          "start": 12119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "ENST00000693420.1:c.11797T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509435.1:p.Tyr3933His",
        "hgvsWellDefined": "ENSP00000509435.1:p.Tyr3933His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834237"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12529,
          "referenceAllele": "T",
          "start": 12528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "ENST00000679879.1:c.12154T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505357.1:p.Tyr4052His",
        "hgvsWellDefined": "ENSP00000505357.1:p.Tyr4052His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779501",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000679879.1:c.12154T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001384125.1:c.12154T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000505357.1:p.Tyr4052His"
          },
          "RefSeq": {
            "hgvs": "NP_001371054.1:p.Tyr4052His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12263,
          "referenceAllele": "T",
          "start": 12262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "ENST00000264501.8:c.11890T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264501.4:p.Tyr3964His",
        "hgvsWellDefined": "ENSP00000264501.4:p.Tyr3964His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251521"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1017,
          "referenceAllele": "T",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "ENST00000306802.8:c.1017T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS255792"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11935,
          "referenceAllele": "T",
          "start": 11934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "ENST00000388738.7:c.11890T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373390.3:p.Tyr3964His",
        "hgvsWellDefined": "ENSP00000373390.3:p.Tyr3964His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274063"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1897,
          "referenceAllele": "T",
          "start": 1896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "ENST00000438707.5:c.1897T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410874.1:p.Tyr633His",
        "hgvsWellDefined": "ENSP00000410874.1:p.Tyr633His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295067"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 141,
          "referenceAllele": "T",
          "start": 140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "ENST00000483357.1:n.141T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915980747",
      "coordinates": [
        {
          "allele": "C",
          "end": 11935,
          "referenceAllele": "T",
          "start": 11934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "NM_015312.3:c.11890T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_056127.2:p.Tyr3964His",
        "hgvsWellDefined": "NP_056127.2:p.Tyr3964His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033915"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12326,
          "referenceAllele": "T",
          "start": 12325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "XM_005263282.1:c.11953T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263339.1:p.Tyr3985His",
        "hgvsWellDefined": "XP_005263339.1:p.Tyr3985His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063748"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12263,
          "referenceAllele": "T",
          "start": 12262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "XM_005263287.1:c.11890T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263344.1:p.Tyr3964His",
        "hgvsWellDefined": "XP_005263344.1:p.Tyr3964His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063749"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12260,
          "referenceAllele": "T",
          "start": 12259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "XM_006714344.1:c.11887T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714407.1:p.Tyr3963His",
        "hgvsWellDefined": "XP_006714407.1:p.Tyr3963His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070610"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12527,
          "referenceAllele": "T",
          "start": 12526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "XM_011532319.1:c.12154T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530621.1:p.Tyr4052His",
        "hgvsWellDefined": "XP_011530621.1:p.Tyr4052His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099346"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12611,
          "referenceAllele": "T",
          "start": 12610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "XM_011532320.1:c.12154T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530622.1:p.Tyr4052His",
        "hgvsWellDefined": "XP_011530622.1:p.Tyr4052His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099347"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12273,
          "referenceAllele": "T",
          "start": 12272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "XM_011532321.1:c.12154T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530623.1:p.Tyr4052His",
        "hgvsWellDefined": "XP_011530623.1:p.Tyr4052His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12524,
          "referenceAllele": "T",
          "start": 12523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "XM_011532322.1:c.12151T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530624.1:p.Tyr4051His",
        "hgvsWellDefined": "XP_011530624.1:p.Tyr4051His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12476,
          "referenceAllele": "T",
          "start": 12475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "XM_011532323.1:c.12103T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530625.1:p.Tyr4035His",
        "hgvsWellDefined": "XP_011530625.1:p.Tyr4035His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12464,
          "referenceAllele": "T",
          "start": 12463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "XM_011532324.1:c.12091T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530626.1:p.Tyr4031His",
        "hgvsWellDefined": "XP_011530626.1:p.Tyr4031His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12422,
          "referenceAllele": "T",
          "start": 12421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "XM_011532325.1:c.12049T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530627.1:p.Tyr4017His",
        "hgvsWellDefined": "XP_011530627.1:p.Tyr4017His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099352"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12398,
          "referenceAllele": "T",
          "start": 12397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "XM_011532326.1:c.12025T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530628.1:p.Tyr4009His",
        "hgvsWellDefined": "XP_011530628.1:p.Tyr4009His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099353"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12573,
          "referenceAllele": "T",
          "start": 12572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "XM_011532327.1:c.12004T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530629.1:p.Tyr4002His",
        "hgvsWellDefined": "XP_011530629.1:p.Tyr4002His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099354"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12527,
          "referenceAllele": "T",
          "start": 12526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "XM_011532328.1:c.12154T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530630.1:p.Tyr4052His",
        "hgvsWellDefined": "XP_011530630.1:p.Tyr4052His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099355"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12527,
          "referenceAllele": "T",
          "start": 12526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "XM_011532329.1:c.12154T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530631.1:p.Tyr4052His",
        "hgvsWellDefined": "XP_011530631.1:p.Tyr4052His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099356"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10473,
          "referenceAllele": "T",
          "start": 10472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "XM_011532330.1:c.10405T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530632.1:p.Tyr3469His",
        "hgvsWellDefined": "XP_011530632.1:p.Tyr3469His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099357"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12623,
          "referenceAllele": "T",
          "start": 12622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "XM_011532320.3:c.12154T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530622.1:p.Tyr4052His",
        "hgvsWellDefined": "XP_011530622.1:p.Tyr4052His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550789"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12329,
          "referenceAllele": "T",
          "start": 12328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "XM_011532321.2:c.12154T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530623.1:p.Tyr4052His",
        "hgvsWellDefined": "XP_011530623.1:p.Tyr4052His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550790"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12221,
          "referenceAllele": "T",
          "start": 12220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "XM_017008695.1:c.11848T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864184.1:p.Tyr3950His",
        "hgvsWellDefined": "XP_016864184.1:p.Tyr3950His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563155"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12170,
          "referenceAllele": "T",
          "start": 12169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "XM_017008696.1:c.11797T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864185.1:p.Tyr3933His",
        "hgvsWellDefined": "XP_016864185.1:p.Tyr3933His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563156"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12158,
          "referenceAllele": "T",
          "start": 12157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "XM_017008697.1:c.11785T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864186.1:p.Tyr3929His",
        "hgvsWellDefined": "XP_016864186.1:p.Tyr3929His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563157"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10489,
          "referenceAllele": "T",
          "start": 10488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "XM_017008698.1:c.9385T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864187.1:p.Tyr3129His",
        "hgvsWellDefined": "XP_016864187.1:p.Tyr3129His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563158"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10406,
          "referenceAllele": "T",
          "start": 10405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "XM_024454243.1:c.10306T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310011.1:p.Tyr3436His",
        "hgvsWellDefined": "XP_024310011.1:p.Tyr3436His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587612"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12527,
          "referenceAllele": "T",
          "start": 12526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "XR_001741335.2:n.12527T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591343"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573077196",
      "coordinates": [
        {
          "allele": "C",
          "end": 12529,
          "referenceAllele": "T",
          "start": 12528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "NM_001384125.1:c.12154T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371054.1:p.Tyr4052His",
        "hgvsWellDefined": "NP_001371054.1:p.Tyr4052His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722654",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000679879.1:c.12154T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001384125.1:c.12154T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000505357.1:p.Tyr4052His"
          },
          "RefSeq": {
            "hgvs": "NP_001371054.1:p.Tyr4052His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915980747",
      "coordinates": [
        {
          "allele": "C",
          "end": 11935,
          "referenceAllele": "T",
          "start": 11934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026953",
      "geneNCBI_id": 84162,
      "geneSymbol": "BLTP1",
      "hgvs": [
        "NM_015312.4:c.11890T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_056127.2:p.Tyr3964His",
        "hgvsWellDefined": "NP_056127.2:p.Tyr3964His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728062"
    }
  ],
  "type": "nucleotide"
}