{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA277745",
  "communityStandardTitle": [
    "NM_153704.6(TMEM67):c.244C>T (p.Pro82Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214270[alleleid]",
        "alleleId": 214270,
        "preferredName": "NM_153704.6(TMEM67):c.244C>T (p.Pro82Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217715",
        "RCV": [
          "RCV000201641",
          "RCV003330578"
        ],
        "variationId": 217715
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-94768026-C-T",
        "id": "8-94768026-C-T",
        "variant": "8:94768026 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.94768026C>T?assembly=hg19",
        "id": "chr8:g.94768026C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.93755798C>T?assembly=hg38",
        "id": "chr8:g.93755798C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/762543032",
        "rs": 762543032
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-94768026-C-T?dataset=gnomad_r2_1",
        "id": "8-94768026-C-T",
        "variant": "8:94768026 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-93755798-C-T?dataset=gnomad_r4",
        "id": "8-93755798-C-T",
        "variant": "8:93755798 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 93755798,
          "referenceAllele": "C",
          "start": 93755797
        }
      ],
      "hgvs": [
        "NC_000008.11:g.93755798C>T",
        "CM000670.2:g.93755798C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 94768026,
          "referenceAllele": "C",
          "start": 94768025
        }
      ],
      "hgvs": [
        "NC_000008.10:g.94768026C>T",
        "CM000670.1:g.94768026C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 94837202,
          "referenceAllele": "C",
          "start": 94837201
        }
      ],
      "hgvs": [
        "NC_000008.9:g.94837202C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5955,
          "referenceAllele": "C",
          "start": 5954
        }
      ],
      "hgvs": [
        "NG_009190.1:g.5955C>T",
        "LRG_688:g.5955C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001468"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000323130.8:c.244C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314488.4:p.Pro82Ser",
        "hgvsWellDefined": "ENSP00000314488.4:p.Pro82Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823873"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 260,
          "referenceAllele": "C",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000409623.8:c.244C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386966.4:p.Pro82Ser",
        "hgvsWellDefined": "ENSP00000386966.4:p.Pro82Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824612"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000452276.6:c.244C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388671.2:p.Pro82Ser",
        "hgvsWellDefined": "ENSP00000388671.2:p.Pro82Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 265,
          "referenceAllele": "C",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000453906.6:c.244C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403035.2:p.Pro82Ser",
        "hgvsWellDefined": "ENSP00000403035.2:p.Pro82Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825047"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "referenceAllele": "C",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000520680.2:c.244C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428785.2:p.Pro82Ser",
        "hgvsWellDefined": "ENSP00000428785.2:p.Pro82Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825660"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 265,
          "referenceAllele": "C",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000521065.2:c.244C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427947.2:p.Pro82Ser",
        "hgvsWellDefined": "ENSP00000427947.2:p.Pro82Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825666"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000521517.6:c.244C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430740.2:p.Pro82Ser",
        "hgvsWellDefined": "ENSP00000430740.2:p.Pro82Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825670"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000681998.1:c.244C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506773.1:p.Pro82Ser",
        "hgvsWellDefined": "ENSP00000506773.1:p.Pro82Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826997"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 265,
          "referenceAllele": "C",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682036.1:c.244C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508390.1:p.Pro82Ser",
        "hgvsWellDefined": "ENSP00000508390.1:p.Pro82Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827034"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682577.1:c.244C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506963.1:p.Pro82Ser",
        "hgvsWellDefined": "ENSP00000506963.1:p.Pro82Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827567"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 244,
          "endIntronDirection": "+",
          "endIntronOffset": 661,
          "referenceAllele": "C",
          "start": 244,
          "startIntronDirection": "+",
          "startIntronOffset": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682624.1:c.223+661C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508343.1:n.223+661C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827613"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682700.1:c.244C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507627.1:p.Pro82Ser",
        "hgvsWellDefined": "ENSP00000507627.1:p.Pro82Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 137,
          "referenceAllele": "C",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682804.1:n.137C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827793"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682837.1:c.244C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507920.1:p.Pro82Ser",
        "hgvsWellDefined": "ENSP00000507920.1:p.Pro82Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827825"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682935.1:n.244C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827923"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 265,
          "referenceAllele": "C",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682984.1:c.244C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507209.1:p.Pro82Ser",
        "hgvsWellDefined": "ENSP00000507209.1:p.Pro82Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827971"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683078.1:c.244C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506796.1:p.Pro82Ser",
        "hgvsWellDefined": "ENSP00000506796.1:p.Pro82Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828063"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 223,
          "endIntronDirection": "+",
          "endIntronOffset": 661,
          "referenceAllele": "C",
          "start": 223,
          "startIntronDirection": "+",
          "startIntronOffset": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683223.1:c.223+661C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507685.1:n.223+661C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 65,
          "referenceAllele": "C",
          "start": 64
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683238.1:n.65C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828220"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 265,
          "referenceAllele": "C",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683249.1:n.265C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683336.1:c.244C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507695.1:p.Pro82Ser",
        "hgvsWellDefined": "ENSP00000507695.1:p.Pro82Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 265,
          "referenceAllele": "C",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683362.1:c.244C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506985.1:p.Pro82Ser",
        "hgvsWellDefined": "ENSP00000506985.1:p.Pro82Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828342"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 167,
          "referenceAllele": "C",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683850.1:n.167C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828817"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683919.1:c.244C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507617.1:p.Pro82Ser",
        "hgvsWellDefined": "ENSP00000507617.1:p.Pro82Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828885"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 223,
          "endIntronDirection": "+",
          "endIntronOffset": 661,
          "referenceAllele": "C",
          "start": 223,
          "startIntronDirection": "+",
          "startIntronOffset": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683953.1:c.223+661C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508375.1:n.223+661C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828916"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684023.1:c.244C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507461.1:p.Pro82Ser",
        "hgvsWellDefined": "ENSP00000507461.1:p.Pro82Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 205,
          "referenceAllele": "C",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684064.1:c.-66C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508192.1:n.-66C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 234,
          "referenceAllele": "C",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684089.1:n.234C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829048"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 265,
          "referenceAllele": "C",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684149.1:c.244C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507943.1:p.Pro82Ser",
        "hgvsWellDefined": "ENSP00000507943.1:p.Pro82Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829107"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 141,
          "endIntronDirection": "+",
          "endIntronOffset": 661,
          "referenceAllele": "C",
          "start": 141,
          "startIntronDirection": "+",
          "startIntronOffset": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684416.1:n.141+661C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684540.1:c.244C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507987.1:p.Pro82Ser",
        "hgvsWellDefined": "ENSP00000507987.1:p.Pro82Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829493"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 247,
          "endIntronDirection": "+",
          "endIntronOffset": 661,
          "referenceAllele": "C",
          "start": 247,
          "startIntronDirection": "+",
          "startIntronOffset": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684733.1:n.247+661C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 265,
          "referenceAllele": "C",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000453321.8:c.244C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389998.3:p.Pro82Ser",
        "hgvsWellDefined": "ENSP00000389998.3:p.Pro82Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756420",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453321.8:c.244C>T"
          },
          "RefSeq": {
            "hgvs": "NM_153704.6:c.244C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389998.3:p.Pro82Ser"
          },
          "RefSeq": {
            "hgvs": "NP_714915.3:p.Pro82Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 232,
          "referenceAllele": "C",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000323130.7:c.214C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314488.3:p.Pro72Ser",
        "hgvsWellDefined": "ENSP00000314488.3:p.Pro72Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258176"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 141,
          "endIntronDirection": "+",
          "endIntronOffset": 661,
          "referenceAllele": "C",
          "start": 141,
          "startIntronDirection": "+",
          "startIntronOffset": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000409623.7:c.-62+661C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386966.3:n.-62+661C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281708"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 205,
          "referenceAllele": "C",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000452276.5:c.-66C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388671.1:n.-66C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 302,
          "referenceAllele": "C",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000453321.7:c.244C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389998.3:p.Pro82Ser",
        "hgvsWellDefined": "ENSP00000389998.3:p.Pro82Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 264,
          "referenceAllele": "C",
          "start": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000453906.5:c.244C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403035.1:p.Pro82Ser",
        "hgvsWellDefined": "ENSP00000403035.1:p.Pro82Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302328"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 250,
          "referenceAllele": "C",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000455946.5:c.244C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416339.1:p.Pro82Ser",
        "hgvsWellDefined": "ENSP00000416339.1:p.Pro82Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303272"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 264,
          "referenceAllele": "C",
          "start": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000474944.5:n.264C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 253,
          "referenceAllele": "C",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000475305.1:n.253C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316616"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 247,
          "referenceAllele": "C",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000481620.1:n.247C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 184,
          "referenceAllele": "C",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000498673.5:c.-279C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430232.1:n.-279C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS334628"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 184,
          "referenceAllele": "C",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000518319.5:c.-272C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430289.1:n.-272C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345807"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 218,
          "endIntronDirection": "+",
          "endIntronOffset": 661,
          "referenceAllele": "C",
          "start": 218,
          "startIntronDirection": "+",
          "startIntronOffset": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000521065.1:c.218+661C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347975"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 253,
          "referenceAllele": "C",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000521222.5:c.244C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429925.1:p.Pro82Ser",
        "hgvsWellDefined": "ENSP00000429925.1:p.Pro82Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS348086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 236,
          "referenceAllele": "C",
          "start": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000521517.5:c.236C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS348314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 184,
          "endIntronDirection": "+",
          "endIntronOffset": 661,
          "referenceAllele": "C",
          "start": 184,
          "startIntronDirection": "+",
          "startIntronOffset": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NM_001142301.1:c.-62+661C>T",
        "LRG_688t2:c.-62+661C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135773.1:n.-62+661C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012819"
    },
    {
      "@id": "http://reg.genome.network/allele/PA277747",
      "coordinates": [
        {
          "allele": "T",
          "end": 315,
          "referenceAllele": "C",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NM_153704.5:c.244C>T",
        "LRG_688t1:c.244C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_714915.3:p.Pro82Ser",
        "hgvsWellDefined": "NP_714915.3:p.Pro82Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 315,
          "referenceAllele": "C",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NR_024522.1:n.315C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047028"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 218,
          "endIntronDirection": "+",
          "endIntronOffset": 661,
          "referenceAllele": "C",
          "start": 218,
          "startIntronDirection": "+",
          "startIntronOffset": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_006716686.2:c.9+661C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716749.1:n.9+661C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071794"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 287,
          "referenceAllele": "C",
          "start": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_011517363.1:c.244C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515665.1:p.Pro82Ser",
        "hgvsWellDefined": "XP_011515665.1:p.Pro82Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084561"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 302,
          "referenceAllele": "C",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_428387.1:n.302C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118043"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 302,
          "referenceAllele": "C",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928360.1:n.302C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 302,
          "referenceAllele": "C",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928361.1:n.302C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124766"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 302,
          "referenceAllele": "C",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928362.1:n.302C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 221,
          "endIntronDirection": "+",
          "endIntronOffset": 661,
          "referenceAllele": "C",
          "start": 221,
          "startIntronDirection": "+",
          "startIntronOffset": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_006716686.4:c.9+661C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716749.1:n.9+661C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 259,
          "referenceAllele": "C",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_011517363.3:c.244C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515665.1:p.Pro82Ser",
        "hgvsWellDefined": "XP_011515665.1:p.Pro82Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 246,
          "referenceAllele": "C",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_024447326.1:c.-166C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303094.1:n.-166C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 285,
          "referenceAllele": "C",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_001745619.2:n.285C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594108"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 285,
          "referenceAllele": "C",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_428387.2:n.285C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606547"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 285,
          "referenceAllele": "C",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928360.3:n.285C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 285,
          "referenceAllele": "C",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928362.3:n.285C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608842"
    },
    {
      "@id": "http://reg.genome.network/allele/PA277747",
      "coordinates": [
        {
          "allele": "T",
          "end": 265,
          "referenceAllele": "C",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NM_153704.6:c.244C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_714915.3:p.Pro82Ser",
        "hgvsWellDefined": "NP_714915.3:p.Pro82Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700392",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453321.8:c.244C>T"
          },
          "RefSeq": {
            "hgvs": "NM_153704.6:c.244C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389998.3:p.Pro82Ser"
          },
          "RefSeq": {
            "hgvs": "NP_714915.3:p.Pro82Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 265,
          "referenceAllele": "C",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NR_024522.2:n.265C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701872"
    }
  ],
  "type": "nucleotide"
}