{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4808434",
  "communityStandardTitle": [
    "NM_153704.6(TMEM67):c.2924G>A (p.Arg975His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=306010[alleleid]",
        "alleleId": 306010,
        "preferredName": "NM_153704.6(TMEM67):c.2924G>A (p.Arg975His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/363927",
        "RCV": [
          "RCV000287697",
          "RCV000351936",
          "RCV000382096",
          "RCV001861333"
        ],
        "variationId": 363927
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-94828616-G-A",
        "id": "8-94828616-G-A",
        "variant": "8:94828616 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.94828616G>A?assembly=hg19",
        "id": "chr8:g.94828616G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.93816388G>A?assembly=hg38",
        "id": "chr8:g.93816388G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/191759530",
        "rs": 191759530
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-94828616-G-A?dataset=gnomad_r2_1",
        "id": "8-94828616-G-A",
        "variant": "8:94828616 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-93816388-G-A?dataset=gnomad_r3",
        "id": "8-93816388-G-A",
        "variant": "8:93816388 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-93816388-G-A?dataset=gnomad_r4",
        "id": "8-93816388-G-A",
        "variant": "8:93816388 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 93816388,
          "referenceAllele": "G",
          "start": 93816387
        }
      ],
      "hgvs": [
        "NC_000008.11:g.93816388G>A",
        "CM000670.2:g.93816388G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 94828616,
          "referenceAllele": "G",
          "start": 94828615
        }
      ],
      "hgvs": [
        "NC_000008.10:g.94828616G>A",
        "CM000670.1:g.94828616G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 94897792,
          "referenceAllele": "G",
          "start": 94897791
        }
      ],
      "hgvs": [
        "NC_000008.9:g.94897792G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 66545,
          "referenceAllele": "G",
          "start": 66544
        }
      ],
      "hgvs": [
        "NG_009190.1:g.66545G>A",
        "LRG_688:g.66545G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001468"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2924,
          "referenceAllele": "G",
          "start": 2923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000323130.8:c.2924G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314488.4:p.Arg975His",
        "hgvsWellDefined": "ENSP00000314488.4:p.Arg975His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823873"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2895,
          "referenceAllele": "G",
          "start": 2894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000409623.8:c.2879G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386966.4:p.Arg960His",
        "hgvsWellDefined": "ENSP00000386966.4:p.Arg960His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824612"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2807,
          "referenceAllele": "G",
          "start": 2806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000452276.6:c.2807G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388671.2:p.Arg936His",
        "hgvsWellDefined": "ENSP00000388671.2:p.Arg936His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825032"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2063,
          "referenceAllele": "G",
          "start": 2062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000453906.6:c.2042G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403035.2:p.Arg681His",
        "hgvsWellDefined": "ENSP00000403035.2:p.Arg681His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825047"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1215,
          "referenceAllele": "G",
          "start": 1214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000518896.2:c.1215G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507992.1:n.1215G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825640"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3052,
          "referenceAllele": "G",
          "start": 3051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000520680.2:c.3047G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428785.2:p.Arg1016His",
        "hgvsWellDefined": "ENSP00000428785.2:p.Arg1016His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825660"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2825,
          "referenceAllele": "G",
          "start": 2824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000521517.6:c.2825G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430740.2:p.Arg942His",
        "hgvsWellDefined": "ENSP00000430740.2:p.Arg942His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825670"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2745,
          "referenceAllele": "G",
          "start": 2744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000681998.1:c.2745G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506773.1:n.2745G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826997"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2186,
          "referenceAllele": "G",
          "start": 2185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682036.1:c.2165G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508390.1:p.Arg722His",
        "hgvsWellDefined": "ENSP00000508390.1:p.Arg722His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827034"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2697,
          "referenceAllele": "G",
          "start": 2696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682577.1:c.2697G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506963.1:n.2697G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827567"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2786,
          "referenceAllele": "G",
          "start": 2785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682624.1:c.*2498G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508343.1:n.*2498G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3055,
          "referenceAllele": "G",
          "start": 3054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682700.1:c.3055G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507627.1:n.3055G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2359,
          "referenceAllele": "G",
          "start": 2358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682744.1:n.2359G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2747,
          "referenceAllele": "G",
          "start": 2746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682804.1:n.2747G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827793"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2413,
          "referenceAllele": "G",
          "start": 2412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682837.1:c.2413G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507920.1:n.2413G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827825"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4974,
          "referenceAllele": "G",
          "start": 4973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682935.1:n.4974G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827923"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2606,
          "referenceAllele": "G",
          "start": 2605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000682984.1:c.2585G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507209.1:p.Arg862His",
        "hgvsWellDefined": "ENSP00000507209.1:p.Arg862His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827971"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2679,
          "referenceAllele": "G",
          "start": 2678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683078.1:c.2679G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506796.1:n.2679G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828063"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2850,
          "referenceAllele": "G",
          "start": 2849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683223.1:c.2850G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507685.1:n.2850G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4148,
          "referenceAllele": "G",
          "start": 4147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683238.1:n.4148G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828220"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4521,
          "referenceAllele": "G",
          "start": 4520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683249.1:n.4521G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2642,
          "referenceAllele": "G",
          "start": 2641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683336.1:c.2642G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507695.1:n.2642G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828317"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2606,
          "referenceAllele": "G",
          "start": 2605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683362.1:c.2585G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506985.1:p.Arg862His",
        "hgvsWellDefined": "ENSP00000506985.1:p.Arg862His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828342"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2854,
          "referenceAllele": "G",
          "start": 2853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683919.1:c.2854G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507617.1:n.2854G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828885"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2835,
          "referenceAllele": "G",
          "start": 2834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000683953.1:c.2835G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508375.1:n.2835G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828916"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3095,
          "referenceAllele": "G",
          "start": 3094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684023.1:c.3095G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507461.1:n.3095G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2885,
          "referenceAllele": "G",
          "start": 2884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684064.1:c.2615G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508192.1:p.Arg872His",
        "hgvsWellDefined": "ENSP00000508192.1:p.Arg872His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4474,
          "referenceAllele": "G",
          "start": 4473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684089.1:n.4474G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829048"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2718,
          "referenceAllele": "G",
          "start": 2717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684149.1:c.*2103G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507943.1:n.*2103G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829107"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1301,
          "referenceAllele": "G",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684343.1:c.1121G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507591.1:p.Arg374His",
        "hgvsWellDefined": "ENSP00000507591.1:p.Arg374His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829298"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2883,
          "referenceAllele": "G",
          "start": 2882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684416.1:n.2883G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829371"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3048,
          "referenceAllele": "G",
          "start": 3047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684540.1:c.3048G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507987.1:n.3048G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829493"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2945,
          "referenceAllele": "G",
          "start": 2944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000453321.8:c.2924G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389998.3:p.Arg975His",
        "hgvsWellDefined": "ENSP00000389998.3:p.Arg975His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756420",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453321.8:c.2924G>A"
          },
          "RefSeq": {
            "hgvs": "NM_153704.6:c.2924G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389998.3:p.Arg975His"
          },
          "RefSeq": {
            "hgvs": "NP_714915.3:p.Arg975His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2912,
          "referenceAllele": "G",
          "start": 2911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000323130.7:c.2894G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314488.3:p.Arg965His",
        "hgvsWellDefined": "ENSP00000314488.3:p.Arg965His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258176"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2883,
          "referenceAllele": "G",
          "start": 2882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000409623.7:c.2681G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386966.3:p.Arg894His",
        "hgvsWellDefined": "ENSP00000386966.3:p.Arg894His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281708"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2982,
          "referenceAllele": "G",
          "start": 2981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000453321.7:c.2924G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389998.3:p.Arg975His",
        "hgvsWellDefined": "ENSP00000389998.3:p.Arg975His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 190,
          "referenceAllele": "G",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000518896.1:n.190G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS346255"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1656,
          "referenceAllele": "G",
          "start": 1655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000519845.5:n.1656G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347010"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825843399",
      "coordinates": [
        {
          "allele": "A",
          "end": 2926,
          "referenceAllele": "G",
          "start": 2925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NM_001142301.1:c.2681G>A",
        "LRG_688t2:c.2681G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135773.1:p.Arg894His",
        "hgvsWellDefined": "NP_001135773.1:p.Arg894His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012819"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645453454",
      "coordinates": [
        {
          "allele": "A",
          "end": 2995,
          "referenceAllele": "G",
          "start": 2994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NM_153704.5:c.2924G>A",
        "LRG_688t1:c.2924G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_714915.3:p.Arg975His",
        "hgvsWellDefined": "NP_714915.3:p.Arg975His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042476"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2995,
          "referenceAllele": "G",
          "start": 2994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NR_024522.1:n.2995G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047028"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2830,
          "referenceAllele": "G",
          "start": 2829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_006716686.2:c.2621G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716749.1:p.Arg874His",
        "hgvsWellDefined": "XP_006716749.1:p.Arg874His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071794"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2339,
          "referenceAllele": "G",
          "start": 2338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_006716687.2:c.2324G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716750.1:p.Arg775His",
        "hgvsWellDefined": "XP_006716750.1:p.Arg775His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071795"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2085,
          "referenceAllele": "G",
          "start": 2084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_011517363.1:c.2042G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515665.1:p.Arg681His",
        "hgvsWellDefined": "XP_011515665.1:p.Arg681His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084561"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2982,
          "referenceAllele": "G",
          "start": 2981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_428387.1:n.2982G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118043"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2982,
          "referenceAllele": "G",
          "start": 2981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928360.1:n.2982G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2982,
          "referenceAllele": "G",
          "start": 2981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928361.1:n.2982G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124766"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3176,
          "referenceAllele": "G",
          "start": 3175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928362.1:n.3176G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2833,
          "referenceAllele": "G",
          "start": 2832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_006716686.4:c.2621G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716749.1:p.Arg874His",
        "hgvsWellDefined": "XP_006716749.1:p.Arg874His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2057,
          "referenceAllele": "G",
          "start": 2056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_011517363.3:c.2042G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515665.1:p.Arg681His",
        "hgvsWellDefined": "XP_011515665.1:p.Arg681His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2681,
          "referenceAllele": "G",
          "start": 2680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XM_024447326.1:c.2270G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303094.1:p.Arg757His",
        "hgvsWellDefined": "XP_024303094.1:p.Arg757His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2965,
          "referenceAllele": "G",
          "start": 2964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_001745619.2:n.2965G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594108"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2965,
          "referenceAllele": "G",
          "start": 2964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_428387.2:n.2965G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606547"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2965,
          "referenceAllele": "G",
          "start": 2964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928360.3:n.2965G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608841"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3159,
          "referenceAllele": "G",
          "start": 3158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "XR_928362.3:n.3159G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608842"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645453454",
      "coordinates": [
        {
          "allele": "A",
          "end": 2945,
          "referenceAllele": "G",
          "start": 2944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NM_153704.6:c.2924G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_714915.3:p.Arg975His",
        "hgvsWellDefined": "NP_714915.3:p.Arg975His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700392",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453321.8:c.2924G>A"
          },
          "RefSeq": {
            "hgvs": "NM_153704.6:c.2924G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389998.3:p.Arg975His"
          },
          "RefSeq": {
            "hgvs": "NP_714915.3:p.Arg975His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2945,
          "referenceAllele": "G",
          "start": 2944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NR_024522.2:n.2945G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701872"
    }
  ],
  "type": "nucleotide"
}