{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA371693285",
  "communityStandardTitle": [
    "NM_153704.6(TMEM67):c.1909T>C (p.Phe637Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.94809410T>C?assembly=hg19",
        "id": "chr8:g.94809410T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.93797182T>C?assembly=hg38",
        "id": "chr8:g.93797182T>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 93797182,
          "referenceAllele": "T",
          "start": 93797181
        }
      ],
      "hgvs": [
        "NC_000008.11:g.93797182T>C",
        "CM000670.2:g.93797182T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 94809410,
          "referenceAllele": "T",
          "start": 94809409
        }
      ],
      "hgvs": [
        "NC_000008.10:g.94809410T>C",
        "CM000670.1:g.94809410T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 94878586,
          "referenceAllele": "T",
          "start": 94878585
        }
      ],
      "hgvs": [
        "NC_000008.9:g.94878586T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 47339,
          "referenceAllele": "T",
          "start": 47338
        }
      ],
      "hgvs": [
        "NG_009190.1:g.47339T>C",
        "LRG_688:g.47339T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001468"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1909,
          "referenceAllele": "T",
          "start": 1908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000323130.8:c.1909T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314488.4:p.Phe637Leu",
        "hgvsWellDefined": "ENSP00000314488.4:p.Phe637Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823873"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1880,
          "referenceAllele": "T",
          "start": 1879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000409623.8:c.1864T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386966.4:p.Phe622Leu",
        "hgvsWellDefined": "ENSP00000386966.4:p.Phe622Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824612"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1909,
          "referenceAllele": "T",
          "start": 1908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000452276.6:c.1909T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388671.2:p.Phe637Leu",
        "hgvsWellDefined": "ENSP00000388671.2:p.Phe637Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825032"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1048,
          "referenceAllele": "T",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000453906.6:c.1027T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403035.2:p.Phe343Leu",
        "hgvsWellDefined": "ENSP00000403035.2:p.Phe343Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825047"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 200,
          "referenceAllele": "T",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000518896.2:c.200T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507992.1:n.200T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825640"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2037,
          "referenceAllele": "T",
          "start": 2036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000520680.2:c.2032T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428785.2:p.Phe678Leu",
        "hgvsWellDefined": "ENSP00000428785.2:p.Phe678Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825660"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1810,
          "referenceAllele": "T",
          "start": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000521517.6:c.1810T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430740.2:p.Phe604Leu",
        "hgvsWellDefined": "ENSP00000430740.2:p.Phe604Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825670"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1730,
          "referenceAllele": "T",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000681998.1:c.1730T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506773.1:n.1730T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826997"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1171,
          "referenceAllele": "T",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682036.1:c.1150T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508390.1:p.Phe384Leu",
        "hgvsWellDefined": "ENSP00000508390.1:p.Phe384Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827034"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1682,
          "referenceAllele": "T",
          "start": 1681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682577.1:c.1682T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506963.1:n.1682T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827567"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1771,
          "referenceAllele": "T",
          "start": 1770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682624.1:c.*1483T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508343.1:n.*1483T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827613"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1909,
          "referenceAllele": "T",
          "start": 1908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682700.1:c.1909T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507627.1:p.Phe637Leu",
        "hgvsWellDefined": "ENSP00000507627.1:p.Phe637Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827689"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1447,
          "referenceAllele": "T",
          "start": 1446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682744.1:n.1447T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1732,
          "referenceAllele": "T",
          "start": 1731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682804.1:n.1732T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827793"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1398,
          "referenceAllele": "T",
          "start": 1397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682837.1:c.1398T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507920.1:n.1398T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827825"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3959,
          "referenceAllele": "T",
          "start": 3958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682935.1:n.3959T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827923"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1591,
          "referenceAllele": "T",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682984.1:c.1570T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507209.1:p.Phe524Leu",
        "hgvsWellDefined": "ENSP00000507209.1:p.Phe524Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827971"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1664,
          "referenceAllele": "T",
          "start": 1663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683078.1:c.1664T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506796.1:n.1664T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828063"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1641,
          "referenceAllele": "T",
          "start": 1640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683223.1:c.1641T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507685.1:n.1641T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3133,
          "referenceAllele": "T",
          "start": 3132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683238.1:n.3133T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828220"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3506,
          "referenceAllele": "T",
          "start": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683249.1:n.3506T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828231"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1730,
          "referenceAllele": "T",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683336.1:c.1730T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507695.1:n.1730T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828317"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1591,
          "referenceAllele": "T",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683362.1:c.1570T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506985.1:p.Phe524Leu",
        "hgvsWellDefined": "ENSP00000506985.1:p.Phe524Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828342"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1832,
          "referenceAllele": "T",
          "start": 1831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683850.1:n.1832T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828817"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1839,
          "referenceAllele": "T",
          "start": 1838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683919.1:c.1839T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507617.1:n.1839T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828885"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1820,
          "referenceAllele": "T",
          "start": 1819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683953.1:c.1820T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508375.1:n.1820T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828916"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1886,
          "referenceAllele": "T",
          "start": 1885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684023.1:c.1886T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507461.1:n.1886T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828984"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1870,
          "referenceAllele": "T",
          "start": 1869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684064.1:c.1600T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508192.1:p.Phe534Leu",
        "hgvsWellDefined": "ENSP00000508192.1:p.Phe534Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3459,
          "referenceAllele": "T",
          "start": 3458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684089.1:n.3459T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829048"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1703,
          "referenceAllele": "T",
          "start": 1702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684149.1:c.*1088T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507943.1:n.*1088T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829107"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 286,
          "referenceAllele": "T",
          "start": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684343.1:c.106T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507591.1:p.Phe36Leu",
        "hgvsWellDefined": "ENSP00000507591.1:p.Phe36Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829298"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1868,
          "referenceAllele": "T",
          "start": 1867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684416.1:n.1868T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829371"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1839,
          "referenceAllele": "T",
          "start": 1838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684540.1:c.1839T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507987.1:n.1839T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829493"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1930,
          "referenceAllele": "T",
          "start": 1929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000453321.8:c.1909T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389998.3:p.Phe637Leu",
        "hgvsWellDefined": "ENSP00000389998.3:p.Phe637Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756420",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453321.8:c.1909T>C"
          },
          "RefSeq": {
            "hgvs": "NM_153704.6:c.1909T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389998.3:p.Phe637Leu"
          },
          "RefSeq": {
            "hgvs": "NP_714915.3:p.Phe637Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1897,
          "referenceAllele": "T",
          "start": 1896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000323130.7:c.1879T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314488.3:p.Phe627Leu",
        "hgvsWellDefined": "ENSP00000314488.3:p.Phe627Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258176"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1868,
          "referenceAllele": "T",
          "start": 1867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000409623.7:c.1666T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386966.3:p.Phe556Leu",
        "hgvsWellDefined": "ENSP00000386966.3:p.Phe556Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281708"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1967,
          "referenceAllele": "T",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000453321.7:c.1909T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389998.3:p.Phe637Leu",
        "hgvsWellDefined": "ENSP00000389998.3:p.Phe637Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302051"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1047,
          "referenceAllele": "T",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000474944.5:n.1047T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316339"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 641,
          "referenceAllele": "T",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000519845.5:n.641T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 444,
          "referenceAllele": "T",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000523230.5:n.444T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS349659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA279474",
      "coordinates": [
        {
          "allele": "C",
          "end": 1911,
          "referenceAllele": "T",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NM_001142301.1:c.1666T>C",
        "LRG_688t2:c.1666T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135773.1:p.Phe556Leu",
        "hgvsWellDefined": "NP_001135773.1:p.Phe556Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012819"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102641",
      "coordinates": [
        {
          "allele": "C",
          "end": 1980,
          "referenceAllele": "T",
          "start": 1979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NM_153704.5:c.1909T>C",
        "LRG_688t1:c.1909T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_714915.3:p.Phe637Leu",
        "hgvsWellDefined": "NP_714915.3:p.Phe637Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042476"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1980,
          "referenceAllele": "T",
          "start": 1979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NR_024522.1:n.1980T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047028"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1815,
          "referenceAllele": "T",
          "start": 1814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_006716686.2:c.1606T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716749.1:p.Phe536Leu",
        "hgvsWellDefined": "XP_006716749.1:p.Phe536Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071794"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1324,
          "referenceAllele": "T",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_006716687.2:c.1309T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716750.1:p.Phe437Leu",
        "hgvsWellDefined": "XP_006716750.1:p.Phe437Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071795"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1070,
          "referenceAllele": "T",
          "start": 1069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_011517363.1:c.1027T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515665.1:p.Phe343Leu",
        "hgvsWellDefined": "XP_011515665.1:p.Phe343Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084561"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1967,
          "referenceAllele": "T",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_428387.1:n.1967T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118043"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1967,
          "referenceAllele": "T",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928360.1:n.1967T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124765"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1967,
          "referenceAllele": "T",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928361.1:n.1967T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124766"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1967,
          "referenceAllele": "T",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928362.1:n.1967T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124767"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1818,
          "referenceAllele": "T",
          "start": 1817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_006716686.4:c.1606T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716749.1:p.Phe536Leu",
        "hgvsWellDefined": "XP_006716749.1:p.Phe536Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1042,
          "referenceAllele": "T",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_011517363.3:c.1027T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515665.1:p.Phe343Leu",
        "hgvsWellDefined": "XP_011515665.1:p.Phe343Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544527"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1666,
          "referenceAllele": "T",
          "start": 1665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_024447326.1:c.1255T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303094.1:p.Phe419Leu",
        "hgvsWellDefined": "XP_024303094.1:p.Phe419Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580912"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1950,
          "referenceAllele": "T",
          "start": 1949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_001745619.2:n.1950T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594108"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1950,
          "referenceAllele": "T",
          "start": 1949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_428387.2:n.1950T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606547"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1950,
          "referenceAllele": "T",
          "start": 1949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928360.3:n.1950T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608841"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1950,
          "referenceAllele": "T",
          "start": 1949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928362.3:n.1950T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608842"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102641",
      "coordinates": [
        {
          "allele": "C",
          "end": 1930,
          "referenceAllele": "T",
          "start": 1929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NM_153704.6:c.1909T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_714915.3:p.Phe637Leu",
        "hgvsWellDefined": "NP_714915.3:p.Phe637Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700392",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453321.8:c.1909T>C"
          },
          "RefSeq": {
            "hgvs": "NM_153704.6:c.1909T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389998.3:p.Phe637Leu"
          },
          "RefSeq": {
            "hgvs": "NP_714915.3:p.Phe637Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1930,
          "referenceAllele": "T",
          "start": 1929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NR_024522.2:n.1930T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701872"
    }
  ],
  "type": "nucleotide"
}