{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3274443", "communityStandardTitle": [ "NM_022913.4(GPBP1):c.691G>A (p.Glu231Lys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2308949[alleleid]", "alleleId": 2308949, "preferredName": "NM_022913.4(GPBP1):c.691G>A (p.Glu231Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2324375", "RCV": [ "RCV004169236" ], "variationId": 2324375 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/5-56542929-G-A", "id": "5-56542929-G-A", "variant": "5:56542929 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.56542929G>A?assembly=hg19", "id": "chr5:g.56542929G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.57247102G>A?assembly=hg38", "id": "chr5:g.57247102G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/776447789", "rs": 776447789 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-56542929-G-A?dataset=gnomad_r2_1", "id": "5-56542929-G-A", "variant": "5:56542929 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-57247102-G-A?dataset=gnomad_r3", "id": "5-57247102-G-A", "variant": "5:57247102 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-57247102-G-A?dataset=gnomad_r4", "id": "5-57247102-G-A", "variant": "5:57247102 G / A" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 57247102, "referenceAllele": "G", "start": 57247101 } ], "hgvs": [ "NC_000005.10:g.57247102G>A", "CM000667.2:g.57247102G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 56542929, "referenceAllele": "G", "start": 56542928 } ], "hgvs": [ "NC_000005.9:g.56542929G>A", "CM000667.1:g.56542929G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 56578686, "referenceAllele": "G", "start": 56578685 } ], "hgvs": [ "NC_000005.8:g.56578686G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 78155, "referenceAllele": "G", "start": 78154 } ], "hgvs": [ "NG_029503.1:g.78155G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS004442" }, { "coordinates": [ { "allele": "A", "end": 78155, "referenceAllele": "G", "start": 78154 } ], "hgvs": [ "NG_029503.2:g.78155G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673788" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1854, "referenceAllele": "G", "start": 1853 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "ENST00000506184.7:c.691G>A" ], "proteinEffect": { "hgvs": "ENSP00000421202.2:p.Glu231Lys", "hgvsWellDefined": "ENSP00000421202.2:p.Glu231Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS758074", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000506184.7:c.691G>A" }, "RefSeq": { "hgvs": "NM_022913.4:c.691G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000421202.2:p.Glu231Lys" }, "RefSeq": { "hgvs": "NP_075064.1:p.Glu231Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 722, "referenceAllele": "G", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "ENST00000264779.6:c.712G>A" ], "proteinEffect": { "hgvs": "ENSP00000264779.6:p.Glu238Lys", "hgvsWellDefined": "ENSP00000264779.6:p.Glu238Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS251588" }, { "coordinates": [ { "allele": "A", "end": 1045, "referenceAllele": "G", "start": 1044 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "ENST00000309096.4:n.1045G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS256153" }, { "coordinates": [ { "allele": "A", "end": 2025, "referenceAllele": "G", "start": 2024 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "ENST00000424459.7:c.751G>A" ], "proteinEffect": { "hgvs": "ENSP00000401596.2:p.Glu251Lys", "hgvsWellDefined": "ENSP00000401596.2:p.Glu251Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS288275" }, { "coordinates": [ { "allele": "A", "end": 1796, "referenceAllele": "G", "start": 1795 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "ENST00000506184.6:c.691G>A" ], "proteinEffect": { "hgvs": "ENSP00000421202.2:p.Glu231Lys", "hgvsWellDefined": "ENSP00000421202.2:p.Glu231Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS337783" }, { "coordinates": [ { "allele": "A", "end": 1224, "referenceAllele": "G", "start": 1223 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "ENST00000511209.5:c.712G>A" ], "proteinEffect": { "hgvs": "ENSP00000422337.1:p.Glu238Lys", "hgvsWellDefined": "ENSP00000422337.1:p.Glu238Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS341529" }, { "coordinates": [ { "allele": "A", "end": 345, "referenceAllele": "G", "start": 344 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "ENST00000513524.5:n.345G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS343248" }, { "coordinates": [ { "allele": "A", "end": 1744, "referenceAllele": "G", "start": 1743 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "ENST00000514387.6:c.178G>A" ], "proteinEffect": { "hgvs": "ENSP00000421709.2:p.Glu60Lys", "hgvsWellDefined": "ENSP00000421709.2:p.Glu60Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS343883" }, { "@id": "http://reg.genome.network/allele/PA2825600936", "coordinates": [ { "allele": "A", "end": 1722, "referenceAllele": "G", "start": 1721 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "NM_001127235.2:c.712G>A" ], "proteinEffect": { "hgvs": "NP_001120707.2:p.Glu238Lys", "hgvsWellDefined": "NP_001120707.2:p.Glu238Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011565" }, { "@id": "http://reg.genome.network/allele/PA2825600964", "coordinates": [ { "allele": "A", "end": 769, "referenceAllele": "G", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "NM_001127236.2:c.712G>A" ], "proteinEffect": { "hgvs": "NP_001120708.1:p.Glu238Lys", "hgvsWellDefined": "NP_001120708.1:p.Glu238Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011566" }, { "@id": "http://reg.genome.network/allele/PA2580172660", "coordinates": [ { "allele": "A", "end": 1845, "referenceAllele": "G", "start": 1844 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "NM_001203246.1:c.178G>A" ], "proteinEffect": { "hgvs": "NP_001190175.1:p.Glu60Lys", "hgvsWellDefined": "NP_001190175.1:p.Glu60Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS017462" }, { "@id": "http://reg.genome.network/allele/PA2830001796", "coordinates": [ { "allele": "A", "end": 1965, "referenceAllele": "G", "start": 1964 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "NM_022913.3:c.691G>A" ], "proteinEffect": { "hgvs": "NP_075064.1:p.Glu231Lys", "hgvsWellDefined": "NP_075064.1:p.Glu231Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS037515" }, { "coordinates": [ { "allele": "A", "end": 2001, "referenceAllele": "G", "start": 2000 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_005248571.2:c.772G>A" ], "proteinEffect": { "hgvs": "XP_005248628.1:p.Glu258Lys", "hgvsWellDefined": "XP_005248628.1:p.Glu258Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS058494" }, { "coordinates": [ { "allele": "A", "end": 1860, "referenceAllele": "G", "start": 1859 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_005248572.2:c.772G>A" ], "proteinEffect": { "hgvs": "XP_005248629.1:p.Glu258Lys", "hgvsWellDefined": "XP_005248629.1:p.Glu258Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS058495" }, { "coordinates": [ { "allele": "A", "end": 1980, "referenceAllele": "G", "start": 1979 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_005248573.2:c.751G>A" ], "proteinEffect": { "hgvs": "XP_005248630.1:p.Glu251Lys", "hgvsWellDefined": "XP_005248630.1:p.Glu251Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS058496" }, { "coordinates": [ { "allele": "A", "end": 1941, "referenceAllele": "G", "start": 1940 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_005248574.2:c.712G>A" ], "proteinEffect": { "hgvs": "XP_005248631.1:p.Glu238Lys", "hgvsWellDefined": "XP_005248631.1:p.Glu238Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS058497" }, { "coordinates": [ { "allele": "A", "end": 2016, "referenceAllele": "G", "start": 2015 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_006714673.2:c.772G>A" ], "proteinEffect": { "hgvs": "XP_006714736.1:p.Glu258Lys", "hgvsWellDefined": "XP_006714736.1:p.Glu258Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS070778" }, { "coordinates": [ { "allele": "A", "end": 1995, "referenceAllele": "G", "start": 1994 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_006714674.2:c.751G>A" ], "proteinEffect": { "hgvs": "XP_006714737.1:p.Glu251Lys", "hgvsWellDefined": "XP_006714737.1:p.Glu251Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS070779" }, { "@id": "http://reg.genome.network/allele/PA2827353110", "coordinates": [ { "allele": "A", "end": 2040, "referenceAllele": "G", "start": 2039 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "NM_001331037.1:c.751G>A" ], "proteinEffect": { "hgvs": "NP_001317966.1:p.Glu251Lys", "hgvsWellDefined": "NP_001317966.1:p.Glu251Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS517157" }, { "coordinates": [ { "allele": "A", "end": 1955, "referenceAllele": "G", "start": 1954 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_006714673.4:c.772G>A" ], "proteinEffect": { "hgvs": "XP_006714736.1:p.Glu258Lys", "hgvsWellDefined": "XP_006714736.1:p.Glu258Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS538768" }, { "coordinates": [ { "allele": "A", "end": 1937, "referenceAllele": "G", "start": 1936 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_017009754.2:c.772G>A" ], "proteinEffect": { "hgvs": "XP_016865243.1:p.Glu258Lys", "hgvsWellDefined": "XP_016865243.1:p.Glu258Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS563978" }, { "coordinates": [ { "allele": "A", "end": 1895, "referenceAllele": "G", "start": 1894 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_017009757.2:c.712G>A" ], "proteinEffect": { "hgvs": "XP_016865246.1:p.Glu238Lys", "hgvsWellDefined": "XP_016865246.1:p.Glu238Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS563979" }, { "coordinates": [ { "allele": "A", "end": 1874, "referenceAllele": "G", "start": 1873 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_017009758.2:c.691G>A" ], "proteinEffect": { "hgvs": "XP_016865247.1:p.Glu231Lys", "hgvsWellDefined": "XP_016865247.1:p.Glu231Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS563980" }, { "coordinates": [ { "allele": "A", "end": 1801, "referenceAllele": "G", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_017009759.2:c.691G>A" ], "proteinEffect": { "hgvs": "XP_016865248.1:p.Glu231Lys", "hgvsWellDefined": "XP_016865248.1:p.Glu231Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS563981" }, { "coordinates": [ { "allele": "A", "end": 1867, "referenceAllele": "G", "start": 1866 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_024446172.1:c.772G>A" ], "proteinEffect": { "hgvs": "XP_024301940.1:p.Glu258Lys", "hgvsWellDefined": "XP_024301940.1:p.Glu258Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS579846" }, { "coordinates": [ { "allele": "A", "end": 1916, "referenceAllele": "G", "start": 1915 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_024446173.1:c.751G>A" ], "proteinEffect": { "hgvs": "XP_024301941.1:p.Glu251Lys", "hgvsWellDefined": "XP_024301941.1:p.Glu251Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS579847" }, { "coordinates": [ { "allele": "A", "end": 1846, "referenceAllele": "G", "start": 1845 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_024446174.1:c.751G>A" ], "proteinEffect": { "hgvs": "XP_024301942.1:p.Glu251Lys", "hgvsWellDefined": "XP_024301942.1:p.Glu251Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS579848" }, { "coordinates": [ { "allele": "A", "end": 1877, "referenceAllele": "G", "start": 1876 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_024446175.1:c.712G>A" ], "proteinEffect": { "hgvs": "XP_024301943.1:p.Glu238Lys", "hgvsWellDefined": "XP_024301943.1:p.Glu238Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS579849" }, { "coordinates": [ { "allele": "A", "end": 1807, "referenceAllele": "G", "start": 1806 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_024446176.1:c.712G>A" ], "proteinEffect": { "hgvs": "XP_024301944.1:p.Glu238Lys", "hgvsWellDefined": "XP_024301944.1:p.Glu238Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS579850" }, { "coordinates": [ { "allele": "A", "end": 1786, "referenceAllele": "G", "start": 1785 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_024446177.1:c.691G>A" ], "proteinEffect": { "hgvs": "XP_024301945.1:p.Glu231Lys", "hgvsWellDefined": "XP_024301945.1:p.Glu231Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS579851" }, { "coordinates": [ { "allele": "A", "end": 1666, "referenceAllele": "G", "start": 1665 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_024446178.1:c.178G>A" ], "proteinEffect": { "hgvs": "XP_024301946.1:p.Glu60Lys", "hgvsWellDefined": "XP_024301946.1:p.Glu60Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS579852" }, { "coordinates": [ { "allele": "A", "end": 1796, "referenceAllele": "G", "start": 1795 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_024446179.1:c.178G>A" ], "proteinEffect": { "hgvs": "XP_024301947.1:p.Glu60Lys", "hgvsWellDefined": "XP_024301947.1:p.Glu60Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS579853" }, { "coordinates": [ { "allele": "A", "end": 1726, "referenceAllele": "G", "start": 1725 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_024446180.1:c.178G>A" ], "proteinEffect": { "hgvs": "XP_024301948.1:p.Glu60Lys", "hgvsWellDefined": "XP_024301948.1:p.Glu60Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS579854" }, { "coordinates": [ { "allele": "A", "end": 1937, "referenceAllele": "G", "start": 1936 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XR_001742204.2:n.1937G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS591981" }, { "coordinates": [ { "allele": "A", "end": 1916, "referenceAllele": "G", "start": 1915 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XR_001742205.2:n.1916G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS591982" }, { "coordinates": [ { "allele": "A", "end": 1856, "referenceAllele": "G", "start": 1855 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XR_002956169.1:n.1856G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602331" }, { "@id": "http://reg.genome.network/allele/PA2830001796", "coordinates": [ { "allele": "A", "end": 1854, "referenceAllele": "G", "start": 1853 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "NM_022913.4:c.691G>A" ], "proteinEffect": { "hgvs": "NP_075064.1:p.Glu231Lys", "hgvsWellDefined": "NP_075064.1:p.Glu231Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS670532", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000506184.7:c.691G>A" }, "RefSeq": { "hgvs": "NM_022913.4:c.691G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000421202.2:p.Glu231Lys" }, "RefSeq": { "hgvs": "NP_075064.1:p.Glu231Lys" } } } }, { "@id": "http://reg.genome.network/allele/PA2580172660", "coordinates": [ { "allele": "A", "end": 1734, "referenceAllele": "G", "start": 1733 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "NM_001203246.2:c.178G>A" ], "proteinEffect": { "hgvs": "NP_001190175.1:p.Glu60Lys", "hgvsWellDefined": "NP_001190175.1:p.Glu60Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS714101" }, { "@id": "http://reg.genome.network/allele/PA2827353110", "coordinates": [ { "allele": "A", "end": 1929, "referenceAllele": "G", "start": 1928 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "NM_001331037.2:c.751G>A" ], "proteinEffect": { "hgvs": "NP_001317966.1:p.Glu251Lys", "hgvsWellDefined": "NP_001317966.1:p.Glu251Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS718793" } ], "type": "nucleotide" }