{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8729939",
  "communityStandardTitle": [
    "NM_017565.4(FAM20A):c.721C>T (p.Gln241Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1427246[alleleid]",
        "alleleId": 1427246,
        "preferredName": "NM_017565.4(FAM20A):c.721C>T (p.Gln241Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1371040",
        "RCV": [
          "RCV001864435"
        ],
        "variationId": 1371040
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-66539861-G-A",
        "id": "17-66539861-G-A",
        "variant": "17:66539861 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.66539861G>A?assembly=hg19",
        "id": "chr17:g.66539861G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.68543720G>A?assembly=hg38",
        "id": "chr17:g.68543720G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/746063338",
        "rs": 746063338
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-66539861-G-A?dataset=gnomad_r2_1",
        "id": "17-66539861-G-A",
        "variant": "17:66539861 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-68543720-G-A?dataset=gnomad_r3",
        "id": "17-68543720-G-A",
        "variant": "17:68543720 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-68543720-G-A?dataset=gnomad_r4",
        "id": "17-68543720-G-A",
        "variant": "17:68543720 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 68543720,
          "referenceAllele": "G",
          "start": 68543719
        }
      ],
      "hgvs": [
        "NC_000017.11:g.68543720G>A",
        "CM000679.2:g.68543720G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 66539861,
          "referenceAllele": "G",
          "start": 66539860
        }
      ],
      "hgvs": [
        "NC_000017.10:g.66539861G>A",
        "CM000679.1:g.66539861G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 64051456,
          "referenceAllele": "G",
          "start": 64051455
        }
      ],
      "hgvs": [
        "NC_000017.9:g.64051456G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 135098,
          "referenceAllele": "G",
          "start": 135097
        }
      ],
      "hgvs": [
        "NG_007093.3:g.135098G>A",
        "LRG_514:g.135098G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000473"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 62235,
          "referenceAllele": "C",
          "start": 62234
        }
      ],
      "hgvs": [
        "NG_029809.1:g.62235C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004676"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1098,
          "endIntronDirection": "-",
          "endIntronOffset": 7363,
          "referenceAllele": "G",
          "start": 1098,
          "startIntronDirection": "-",
          "startIntronOffset": 7364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009388",
      "geneNCBI_id": 5573,
      "geneSymbol": "PRKAR1A",
      "hgvs": [
        "ENST00000588188.7:c.974-7364G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468106.2:n.974-7364G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914336"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1065,
          "endIntronDirection": "-",
          "endIntronOffset": 7363,
          "referenceAllele": "G",
          "start": 1065,
          "startIntronDirection": "-",
          "startIntronOffset": 7364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009388",
      "geneNCBI_id": 5573,
      "geneSymbol": "PRKAR1A",
      "hgvs": [
        "ENST00000711037.1:c.974-7364G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518555.1:n.974-7364G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914576"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1293,
          "endIntronDirection": "-",
          "endIntronOffset": 7363,
          "referenceAllele": "G",
          "start": 1293,
          "startIntronDirection": "-",
          "startIntronOffset": 7364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009388",
      "geneNCBI_id": 5573,
      "geneSymbol": "PRKAR1A",
      "hgvs": [
        "ENST00000585981.6:c.974-7364G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467311.2:n.974-7364G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826242"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1422,
          "referenceAllele": "C",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "ENST00000592554.2:c.721C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468308.1:p.Gln241Ter",
        "hgvsWellDefined": "ENSP00000468308.1:p.Gln242_Ser541delinsArgAspGluGluThrProValAspPhePheTyrPheIleAspPheGlnArgHisAsnAlaGluIleAlaAlaPheHisLeuAspArgIleLeuAspPheArgArgValProProThrValGlyArgIleValAsnValThrLysGluIleLeuGluValThrLysAsnGluIleLeuGlnSerValPhePheValSerProAlaSerAsnValCysPhePheAlaLysCysProTyrMetCysLysThrGluTyrAlaValCysGlyAsnProHisLeuLeuGluGlySerLeuSerAlaPheLeuProSerLeuAsnLeuAlaProArgLeuSerValProAsnProTrpIleArgSerTyrThrLeuAlaGlyLysGluGluTrpGluValAsnProLeuTyrCysAspThrValLysGlnIleTyrProTyrAsnAsnSerGlnArgLeuLeuAsnValIleAspMetAlaIlePheAspPheLeuIleGlyAsnMetAspArgHisHisTyrGluMetPheThrLysPheGlyAspAspGlyPheLeuIleHisLeuAspAsnAlaArgGlyPheGlyArgHisSerHisAspGluIleSerIleLeuSerProLeuSerGlnCysCysMetIleLysLysLysThrLeuLeuHisLeuGlnLeuLeuAlaGlnAlaAspTyrArgLeuSerAspValMetArgGluSerLeuLeuGluAspGlnLeuSerProValLeuThrGluProHisLeuLeuAlaLeuAspArgArgLeuGlnThrIleLeuArgThrValGluGlyCysIleValAlaHisGlyGlnGlnSerValIleValAspGlyProValGluGlnLeuAlaProAspSerGlyGlnAlaAsnLeuThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761286",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000592554.2:c.721C>T"
          },
          "RefSeq": {
            "hgvs": "NM_017565.4:c.721C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000468308.1:p.Gln241Ter"
          },
          "RefSeq": {
            "hgvs": "NP_060035.2:p.Gln241Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 376,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 376,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "ENST00000226094.9:n.377-3C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS248544"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 973,
          "endIntronDirection": "-",
          "endIntronOffset": 7363,
          "referenceAllele": "G",
          "start": 973,
          "startIntronDirection": "-",
          "startIntronOffset": 7364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009388",
      "geneNCBI_id": 5573,
      "geneSymbol": "PRKAR1A",
      "hgvs": [
        "ENST00000588188.6:c.974-7364G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468106.2:n.974-7364G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 877,
          "referenceAllele": "C",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "ENST00000590074.5:c.877C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391929"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1444,
          "referenceAllele": "C",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "ENST00000592554.1:c.721C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468308.1:p.Gln241Ter",
        "hgvsWellDefined": "ENSP00000468308.1:p.Gln242_Ser541delinsArgAspGluGluThrProValAspPhePheTyrPheIleAspPheGlnArgHisAsnAlaGluIleAlaAlaPheHisLeuAspArgIleLeuAspPheArgArgValProProThrValGlyArgIleValAsnValThrLysGluIleLeuGluValThrLysAsnGluIleLeuGlnSerValPhePheValSerProAlaSerAsnValCysPhePheAlaLysCysProTyrMetCysLysThrGluTyrAlaValCysGlyAsnProHisLeuLeuGluGlySerLeuSerAlaPheLeuProSerLeuAsnLeuAlaProArgLeuSerValProAsnProTrpIleArgSerTyrThrLeuAlaGlyLysGluGluTrpGluValAsnProLeuTyrCysAspThrValLysGlnIleTyrProTyrAsnAsnSerGlnArgLeuLeuAsnValIleAspMetAlaIlePheAspPheLeuIleGlyAsnMetAspArgHisHisTyrGluMetPheThrLysPheGlyAspAspGlyPheLeuIleHisLeuAspAsnAlaArgGlyPheGlyArgHisSerHisAspGluIleSerIleLeuSerProLeuSerGlnCysCysMetIleLysLysLysThrLeuLeuHisLeuGlnLeuLeuAlaGlnAlaAspTyrArgLeuSerAspValMetArgGluSerLeuLeuGluAspGlnLeuSerProValLeuThrGluProHisLeuLeuAlaLeuAspArgArgLeuGlnThrIleLeuArgThrValGluGlyCysIleValAlaHisGlyGlnGlnSerValIleValAspGlyProValGluGlnLeuAlaProAspSerGlyGlnAlaAsnLeuThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393649"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 363,
          "referenceAllele": "C",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "ENST00000592847.1:n.363C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393847"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826334508",
      "coordinates": [
        {
          "allele": "T",
          "end": 1235,
          "referenceAllele": "C",
          "start": 1234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "NM_001243746.1:c.307C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230675.1:p.Gln103Ter",
        "hgvsWellDefined": "NP_001230675.1:p.Gln104_Ser403delinsArgAspGluGluThrProValAspPhePheTyrPheIleAspPheGlnArgHisAsnAlaGluIleAlaAlaPheHisLeuAspArgIleLeuAspPheArgArgValProProThrValGlyArgIleValAsnValThrLysGluIleLeuGluValThrLysAsnGluIleLeuGlnSerValPhePheValSerProAlaSerAsnValCysPhePheAlaLysCysProTyrMetCysLysThrGluTyrAlaValCysGlyAsnProHisLeuLeuGluGlySerLeuSerAlaPheLeuProSerLeuAsnLeuAlaProArgLeuSerValProAsnProTrpIleArgSerTyrThrLeuAlaGlyLysGluGluTrpGluValAsnProLeuTyrCysAspThrValLysGlnIleTyrProTyrAsnAsnSerGlnArgLeuLeuAsnValIleAspMetAlaIlePheAspPheLeuIleGlyAsnMetAspArgHisHisTyrGluMetPheThrLysPheGlyAspAspGlyPheLeuIleHisLeuAspAsnAlaArgGlyPheGlyArgHisSerHisAspGluIleSerIleLeuSerProLeuSerGlnCysCysMetIleLysLysLysThrLeuLeuHisLeuGlnLeuLeuAlaGlnAlaAspTyrArgLeuSerAspValMetArgGluSerLeuLeuGluAspGlnLeuSerProValLeuThrGluProHisLeuLeuAlaLeuAspArgArgLeuGlnThrIleLeuArgThrValGluGlyCysIleValAlaHisGlyGlnGlnSerValIleValAspGlyProValGluGlnLeuAlaProAspSerGlyGlnAlaAsnLeuThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018582"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 979,
          "endIntronDirection": "-",
          "endIntronOffset": 7363,
          "referenceAllele": "G",
          "start": 979,
          "startIntronDirection": "-",
          "startIntronOffset": 7364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009388",
      "geneNCBI_id": 5573,
      "geneSymbol": "PRKAR1A",
      "hgvs": [
        "NM_001276290.1:c.974-7364G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263219.1:n.974-7364G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573264679",
      "coordinates": [
        {
          "allele": "T",
          "end": 1009,
          "referenceAllele": "C",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "NM_017565.3:c.721C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060035.2:p.Gln241Ter",
        "hgvsWellDefined": "NP_060035.2:p.Gln242_Ser541delinsArgAspGluGluThrProValAspPhePheTyrPheIleAspPheGlnArgHisAsnAlaGluIleAlaAlaPheHisLeuAspArgIleLeuAspPheArgArgValProProThrValGlyArgIleValAsnValThrLysGluIleLeuGluValThrLysAsnGluIleLeuGlnSerValPhePheValSerProAlaSerAsnValCysPhePheAlaLysCysProTyrMetCysLysThrGluTyrAlaValCysGlyAsnProHisLeuLeuGluGlySerLeuSerAlaPheLeuProSerLeuAsnLeuAlaProArgLeuSerValProAsnProTrpIleArgSerTyrThrLeuAlaGlyLysGluGluTrpGluValAsnProLeuTyrCysAspThrValLysGlnIleTyrProTyrAsnAsnSerGlnArgLeuLeuAsnValIleAspMetAlaIlePheAspPheLeuIleGlyAsnMetAspArgHisHisTyrGluMetPheThrLysPheGlyAspAspGlyPheLeuIleHisLeuAspAsnAlaArgGlyPheGlyArgHisSerHisAspGluIleSerIleLeuSerProLeuSerGlnCysCysMetIleLysLysLysThrLeuLeuHisLeuGlnLeuLeuAlaGlnAlaAspTyrArgLeuSerAspValMetArgGluSerLeuLeuGluAspGlnLeuSerProValLeuThrGluProHisLeuLeuAlaLeuAspArgArgLeuGlnThrIleLeuArgThrValGluGlyCysIleValAlaHisGlyGlnGlnSerValIleValAspGlyProValGluGlnLeuAlaProAspSerGlyGlnAlaAsnLeuThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 413,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 413,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "NR_027751.1:n.414-3C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047855"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XM_006721959.2:c.307C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722022.1:p.Gln103Ter",
        "hgvsWellDefined": "XP_006722022.1:p.Gln104_Ser403delinsArgAspGluGluThrProValAspPhePheTyrPheIleAspPheGlnArgHisAsnAlaGluIleAlaAlaPheHisLeuAspArgIleLeuAspPheArgArgValProProThrValGlyArgIleValAsnValThrLysGluIleLeuGluValThrLysAsnGluIleLeuGlnSerValPhePheValSerProAlaSerAsnValCysPhePheAlaLysCysProTyrMetCysLysThrGluTyrAlaValCysGlyAsnProHisLeuLeuGluGlySerLeuSerAlaPheLeuProSerLeuAsnLeuAlaProArgLeuSerValProAsnProTrpIleArgSerTyrThrLeuAlaGlyLysGluGluTrpGluValAsnProLeuTyrCysAspThrValLysGlnIleTyrProTyrAsnAsnSerGlnArgLeuLeuAsnValIleAspMetAlaIlePheAspPheLeuIleGlyAsnMetAspArgHisHisTyrGluMetPheThrLysPheGlyAspAspGlyPheLeuIleHisLeuAspAsnAlaArgGlyPheGlyArgHisSerHisAspGluIleSerIleLeuSerProLeuSerGlnCysCysMetIleLysLysLysThrLeuLeuHisLeuGlnLeuLeuAlaGlnAlaAspTyrArgLeuSerAspValMetArgGluSerLeuLeuGluAspGlnLeuSerProValLeuThrGluProHisLeuLeuAlaLeuAspArgArgLeuGlnThrIleLeuArgThrValGluGlyCysIleValAlaHisGlyGlnGlnSerValIleValAspGlyProValGluGlnLeuAlaProAspSerGlyGlnAlaAsnLeuThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 849,
          "referenceAllele": "C",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XM_006721960.2:c.721C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722023.1:p.Gln241Ter",
        "hgvsWellDefined": "XP_006722023.1:p.Gln242_Leu386delinsArgAspGluGluThrProValAspPhePheTyrPheIleAspPheGlnArgHisAsnAlaGluIleAlaAlaPheHisLeuAspArgIleLeuAspPheArgArgValProProThrValGlyArgIleValAsnValThrLysGluIleLeuGluValThrLysAsnGluIleLeuGlnSerValPhePheValSerProAlaSerAsnValCysPhePheAlaLysCysProTyrMetCysLysThrGluTyrAlaValCysGlyAsnProHisLeuLeuGluGlySerLeuSerAlaPheLeuProSerLeuAsnLeuAlaProArgLeuSerValProAsnProTrpIleArgSerTyrThrLeuAlaGlyLysGluAspProArgThrSerSerProProGlnValGlyGlyGlnSerProLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 847,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 847,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XM_011524917.1:c.720-3C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523219.1:n.720-3C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092036"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 849,
          "referenceAllele": "C",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XM_011524918.1:c.721C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523220.1:p.Gln241Ter",
        "hgvsWellDefined": "XP_011523220.1:p.Gln242_Thr371delinsArgAspGluGluThrProValAspPhePheTyrPheIleAspPheGlnArgHisAsnAlaGluIleAlaAlaPheHisLeuAspArgIleLeuAspPheArgArgValProProThrValGlyArgIleValAsnValThrLysGluIleLeuGluValThrLysAsnGluIleLeuGlnSerValPhePheValSerProAlaSerAsnValCysPhePheAlaLysCysProTyrMetCysLysThrGluTyrAlaValCysGlyAsnProHisLeuLeuGluGlySerLeuSerAlaPheLeuProSerLeuAsnLeuAlaProArgLeuSerValProAsnProTrpIleArgSerTyrThrLeuAlaGlyLysGluGluThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 849,
          "referenceAllele": "C",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XM_011524919.1:c.721C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523221.1:p.Gln241Ter",
        "hgvsWellDefined": "XP_011523221.1:p.Gln242_Cys355delinsArgAspGluGluThrProValAspPhePheTyrPheIleAspPheGlnArgHisAsnAlaGluIleAlaAlaPheHisLeuAspSerGluGlnArgValLeuLeuArgGlnValSerIleHisValGlnAspGlyValCysCysLeuTrpGlnProThrProAlaGlyGlyPheProLeuCysLeuProAlaValProGlnProGlyProGlnAlaValCysAlaGlnProLeuAspProLeuLeuHisThrGlyArgLysArgGlyValSerTrpSerProGlyHisThrAlaGlnSerLeuThrValAlaThrAspProValProGlyThrCysCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092038"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 849,
          "referenceAllele": "C",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XM_011524920.1:c.721C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523222.1:p.Gln241Ter",
        "hgvsWellDefined": "XP_011523222.1:p.Gln242_Asp347delinsArgAspGluGluThrProValAspPhePheTyrPheIleAspPheGlnArgHisAsnAlaGluIleAlaAlaPheHisLeuAspSerGluGlnArgValLeuLeuArgGlnValSerIleHisValGlnAspGlyValCysCysLeuTrpGlnProThrProAlaGlyGlyPheProLeuCysLeuProAlaValProGlnProGlyProGlnAlaValCysAlaGlnProLeuAspProLeuLeuHisThrGlyArgLysArgGlyAspLeuAlaProSerLeuAlaHisSerArgTyrSerThrLeuAlaAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092039"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 849,
          "referenceAllele": "C",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XM_011524921.1:c.721C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523223.1:p.Gln241Ter",
        "hgvsWellDefined": "XP_011523223.1:p.Gln242_Leu339delinsArgAspGluGluThrProValAspPhePheTyrPheIleAspPheGlnArgHisAsnAlaGluIleAlaAlaPheHisLeuAspSerGluGlnArgValLeuLeuArgGlnValSerIleHisValGlnAspGlyValCysCysLeuTrpGlnProThrProAlaGlyGlyPheProLeuCysLeuProAlaValProGlnProGlyProGlnAlaValCysAlaGlnProLeuAspProLeuLeuHisThrGlyArgLysArgGlyValGlyGlyGlnSerProLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092040"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 847,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 847,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XR_429905.1:n.848-3C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118516"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 849,
          "referenceAllele": "C",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XR_934486.1:n.849C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 849,
          "referenceAllele": "C",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XR_934487.1:n.849C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 849,
          "referenceAllele": "C",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XR_934488.1:n.849C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 849,
          "referenceAllele": "C",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XR_934489.1:n.849C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129802"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 849,
          "referenceAllele": "C",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XR_934490.1:n.849C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129803"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XM_006721959.3:c.307C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722022.1:p.Gln103Ter",
        "hgvsWellDefined": "XP_006722022.1:p.Gln104_Ser403delinsArgAspGluGluThrProValAspPhePheTyrPheIleAspPheGlnArgHisAsnAlaGluIleAlaAlaPheHisLeuAspArgIleLeuAspPheArgArgValProProThrValGlyArgIleValAsnValThrLysGluIleLeuGluValThrLysAsnGluIleLeuGlnSerValPhePheValSerProAlaSerAsnValCysPhePheAlaLysCysProTyrMetCysLysThrGluTyrAlaValCysGlyAsnProHisLeuLeuGluGlySerLeuSerAlaPheLeuProSerLeuAsnLeuAlaProArgLeuSerValProAsnProTrpIleArgSerTyrThrLeuAlaGlyLysGluGluTrpGluValAsnProLeuTyrCysAspThrValLysGlnIleTyrProTyrAsnAsnSerGlnArgLeuLeuAsnValIleAspMetAlaIlePheAspPheLeuIleGlyAsnMetAspArgHisHisTyrGluMetPheThrLysPheGlyAspAspGlyPheLeuIleHisLeuAspAsnAlaArgGlyPheGlyArgHisSerHisAspGluIleSerIleLeuSerProLeuSerGlnCysCysMetIleLysLysLysThrLeuLeuHisLeuGlnLeuLeuAlaGlnAlaAspTyrArgLeuSerAspValMetArgGluSerLeuLeuGluAspGlnLeuSerProValLeuThrGluProHisLeuLeuAlaLeuAspArgArgLeuGlnThrIleLeuArgThrValGluGlyCysIleValAlaHisGlyGlnGlnSerValIleValAspGlyProValGluGlnLeuAlaProAspSerGlyGlnAlaAsnLeuThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540429"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 792,
          "referenceAllele": "C",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XM_011524918.3:c.721C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523220.1:p.Gln241Ter",
        "hgvsWellDefined": "XP_011523220.1:p.Gln242_Thr371delinsArgAspGluGluThrProValAspPhePheTyrPheIleAspPheGlnArgHisAsnAlaGluIleAlaAlaPheHisLeuAspArgIleLeuAspPheArgArgValProProThrValGlyArgIleValAsnValThrLysGluIleLeuGluValThrLysAsnGluIleLeuGlnSerValPhePheValSerProAlaSerAsnValCysPhePheAlaLysCysProTyrMetCysLysThrGluTyrAlaValCysGlyAsnProHisLeuLeuGluGlySerLeuSerAlaPheLeuProSerLeuAsnLeuAlaProArgLeuSerValProAsnProTrpIleArgSerTyrThrLeuAlaGlyLysGluGluThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547646"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 792,
          "referenceAllele": "C",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XM_017024781.2:c.721C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880270.1:p.Gln241Ter",
        "hgvsWellDefined": "XP_016880270.1:p.Gln242_Thr389delinsArgAspGluGluThrProValAspPhePheTyrPheIleAspPheGlnArgHisAsnAlaGluIleAlaAlaPheHisLeuAspArgIleLeuAspPheArgArgValProProThrValGlyArgIleValAsnValThrLysGluIleLeuGluValThrLysAsnGluIleLeuGlnSerValPhePheValSerProAlaSerAsnValCysPhePheAlaLysCysProTyrMetCysLysThrGluTyrAlaValCysGlyAsnProHisLeuLeuGluGlySerLeuSerAlaPheLeuProSerLeuAsnLeuAlaProArgLeuSerValProAsnProTrpIleArgSerTyrThrLeuAlaGlyLysGluAspGlnAlaValMetIleIleValGlyLysGluValThrArgGlnAsnPheTrpArgThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 792,
          "referenceAllele": "C",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XR_001752543.2:n.792C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 792,
          "referenceAllele": "C",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XR_001752544.2:n.792C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599230"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 792,
          "referenceAllele": "C",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XR_002958041.1:n.792C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 790,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 790,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XR_429905.2:n.791-3C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 792,
          "referenceAllele": "C",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "XR_934487.3:n.792C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610707"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573264679",
      "coordinates": [
        {
          "allele": "T",
          "end": 1422,
          "referenceAllele": "C",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "NM_017565.4:c.721C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060035.2:p.Gln241Ter",
        "hgvsWellDefined": "NP_060035.2:p.Gln242_Ser541delinsArgAspGluGluThrProValAspPhePheTyrPheIleAspPheGlnArgHisAsnAlaGluIleAlaAlaPheHisLeuAspArgIleLeuAspPheArgArgValProProThrValGlyArgIleValAsnValThrLysGluIleLeuGluValThrLysAsnGluIleLeuGlnSerValPhePheValSerProAlaSerAsnValCysPhePheAlaLysCysProTyrMetCysLysThrGluTyrAlaValCysGlyAsnProHisLeuLeuGluGlySerLeuSerAlaPheLeuProSerLeuAsnLeuAlaProArgLeuSerValProAsnProTrpIleArgSerTyrThrLeuAlaGlyLysGluGluTrpGluValAsnProLeuTyrCysAspThrValLysGlnIleTyrProTyrAsnAsnSerGlnArgLeuLeuAsnValIleAspMetAlaIlePheAspPheLeuIleGlyAsnMetAspArgHisHisTyrGluMetPheThrLysPheGlyAspAspGlyPheLeuIleHisLeuAspAsnAlaArgGlyPheGlyArgHisSerHisAspGluIleSerIleLeuSerProLeuSerGlnCysCysMetIleLysLysLysThrLeuLeuHisLeuGlnLeuLeuAlaGlnAlaAspTyrArgLeuSerAspValMetArgGluSerLeuLeuGluAspGlnLeuSerProValLeuThrGluProHisLeuLeuAlaLeuAspArgArgLeuGlnThrIleLeuArgThrValGluGlyCysIleValAlaHisGlyGlnGlnSerValIleValAspGlyProValGluGlnLeuAlaProAspSerGlyGlnAlaAsnLeuThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669276",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000592554.2:c.721C>T"
          },
          "RefSeq": {
            "hgvs": "NM_017565.4:c.721C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000468308.1:p.Gln241Ter"
          },
          "RefSeq": {
            "hgvs": "NP_060035.2:p.Gln241Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826334508",
      "coordinates": [
        {
          "allele": "T",
          "end": 1648,
          "referenceAllele": "C",
          "start": 1647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "NM_001243746.2:c.307C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230675.1:p.Gln103Ter",
        "hgvsWellDefined": "NP_001230675.1:p.Gln104_Ser403delinsArgAspGluGluThrProValAspPhePheTyrPheIleAspPheGlnArgHisAsnAlaGluIleAlaAlaPheHisLeuAspArgIleLeuAspPheArgArgValProProThrValGlyArgIleValAsnValThrLysGluIleLeuGluValThrLysAsnGluIleLeuGlnSerValPhePheValSerProAlaSerAsnValCysPhePheAlaLysCysProTyrMetCysLysThrGluTyrAlaValCysGlyAsnProHisLeuLeuGluGlySerLeuSerAlaPheLeuProSerLeuAsnLeuAlaProArgLeuSerValProAsnProTrpIleArgSerTyrThrLeuAlaGlyLysGluGluTrpGluValAsnProLeuTyrCysAspThrValLysGlnIleTyrProTyrAsnAsnSerGlnArgLeuLeuAsnValIleAspMetAlaIlePheAspPheLeuIleGlyAsnMetAspArgHisHisTyrGluMetPheThrLysPheGlyAspAspGlyPheLeuIleHisLeuAspAsnAlaArgGlyPheGlyArgHisSerHisAspGluIleSerIleLeuSerProLeuSerGlnCysCysMetIleLysLysLysThrLeuLeuHisLeuGlnLeuLeuAlaGlnAlaAspTyrArgLeuSerAspValMetArgGluSerLeuLeuGluAspGlnLeuSerProValLeuThrGluProHisLeuLeuAlaLeuAspArgArgLeuGlnThrIleLeuArgThrValGluGlyCysIleValAlaHisGlyGlnGlnSerValIleValAspGlyProValGluGlnLeuAlaProAspSerGlyGlnAlaAsnLeuThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680256"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 413,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 413,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "NR_027751.2:n.414-3C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730243"
    }
  ],
  "type": "nucleotide"
}