{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA8565412", "communityStandardTitle": [ "NM_002230.4(JUP):c.694G>A (p.Val232Ile)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=531229[alleleid]", "alleleId": 531229, "preferredName": "NM_002230.4(JUP):c.694G>A (p.Val232Ile)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/536636", "RCV": [ "RCV000645214", "RCV001124845", "RCV001124844", "RCV003303043" ], "variationId": 536636 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/17-39925234-C-T", "id": "17-39925234-C-T", "variant": "17:39925234 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.39925234C>T?assembly=hg19", "id": "chr17:g.39925234C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.41768982C>T?assembly=hg38", "id": "chr17:g.41768982C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/137989964", "rs": 137989964 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-39925234-C-T?dataset=gnomad_r2_1", "id": "17-39925234-C-T", "variant": "17:39925234 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-41768982-C-T?dataset=gnomad_r3", "id": "17-41768982-C-T", "variant": "17:41768982 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-41768982-C-T?dataset=gnomad_r4", "id": "17-41768982-C-T", "variant": "17:41768982 C / T" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 41768982, "referenceAllele": "C", "start": 41768981 } ], "hgvs": [ "NC_000017.11:g.41768982C>T", "CM000679.2:g.41768982C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 39925234, "referenceAllele": "C", "start": 39925233 } ], "hgvs": [ "NC_000017.10:g.39925234C>T", "CM000679.1:g.39925234C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 37178760, "referenceAllele": "C", "start": 37178759 } ], "hgvs": [ "NC_000017.9:g.37178760C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 22731, "referenceAllele": "G", "start": 22730 } ], "hgvs": [ "NG_009090.2:g.22731G>A", "LRG_401:g.22731G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001423" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 826, "referenceAllele": "G", "start": 825 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000393931.8:c.694G>A" ], "proteinEffect": { "hgvs": "ENSP00000377508.3:p.Val232Ile", "hgvsWellDefined": "ENSP00000377508.3:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS753190", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393931.8:c.694G>A" }, "RefSeq": { "hgvs": "NM_002230.4:c.694G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377508.3:p.Val232Ile" }, "RefSeq": { "hgvs": "NP_002221.1:p.Val232Ile" } } } }, { "coordinates": [ { "allele": "A", "end": 813, "referenceAllele": "G", "start": 812 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000310706.9:c.694G>A" ], "proteinEffect": { "hgvs": "ENSP00000311113.5:p.Val232Ile", "hgvsWellDefined": "ENSP00000311113.5:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS256405" }, { "coordinates": [ { "allele": "A", "end": 911, "referenceAllele": "G", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000393930.5:c.694G>A" ], "proteinEffect": { "hgvs": "ENSP00000377507.1:p.Val232Ile", "hgvsWellDefined": "ENSP00000377507.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS275885" }, { "coordinates": [ { "allele": "A", "end": 813, "referenceAllele": "G", "start": 812 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000393931.7:c.694G>A" ], "proteinEffect": { "hgvs": "ENSP00000377508.3:p.Val232Ile", "hgvsWellDefined": "ENSP00000377508.3:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS275886" }, { "coordinates": [ { "allele": "A", "end": 779, "referenceAllele": "G", "start": 778 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000420370.5:c.694G>A" ], "proteinEffect": { "hgvs": "ENSP00000411449.1:p.Val232Ile", "hgvsWellDefined": "ENSP00000411449.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS286287" }, { "coordinates": [ { "allele": "A", "end": 936, "referenceAllele": "G", "start": 935 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000424457.5:c.694G>A" ], "proteinEffect": { "hgvs": "ENSP00000401034.1:p.Val232Ile", "hgvsWellDefined": "ENSP00000401034.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS288273" }, { "coordinates": [ { "allele": "A", "end": 836, "referenceAllele": "G", "start": 835 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000437187.5:c.694G>A" ], "proteinEffect": { "hgvs": "ENSP00000394146.1:p.Val232Ile", "hgvsWellDefined": "ENSP00000394146.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS294343" }, { "coordinates": [ { "allele": "A", "end": 870, "referenceAllele": "G", "start": 869 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000449889.5:c.694G>A" ], "proteinEffect": { "hgvs": "ENSP00000389886.1:p.Val232Ile", "hgvsWellDefined": "ENSP00000389886.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS300436" }, { "@id": "http://reg.genome.network/allele/PA2829368386", "coordinates": [ { "allele": "A", "end": 827, "referenceAllele": "G", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_002230.2:c.694G>A", "LRG_401t2:c.694G>A" ], "proteinEffect": { "hgvs": "NP_002221.1:p.Val232Ile", "hgvsWellDefined": "NP_002221.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS027550" }, { "@id": "http://reg.genome.network/allele/PA658807444", "coordinates": [ { "allele": "A", "end": 827, "referenceAllele": "G", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_021991.2:c.694G>A", "LRG_401t1:c.694G>A" ], "proteinEffect": { "hgvs": "NP_068831.1:p.Val232Ile", "hgvsWellDefined": "NP_068831.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS037134" }, { "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "G", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721873.1:c.694G>A" ], "proteinEffect": { "hgvs": "XP_006721936.1:p.Val232Ile", "hgvsWellDefined": "XP_006721936.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS074292" }, { "coordinates": [ { "allele": "A", "end": 840, "referenceAllele": "G", "start": 839 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721874.1:c.694G>A" ], "proteinEffect": { "hgvs": "XP_006721937.1:p.Val232Ile", "hgvsWellDefined": "XP_006721937.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS074293" }, { "coordinates": [ { "allele": "A", "end": 909, "referenceAllele": "G", "start": 908 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721875.1:c.694G>A" ], "proteinEffect": { "hgvs": "XP_006721938.1:p.Val232Ile", "hgvsWellDefined": "XP_006721938.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS074294" }, { "coordinates": [ { "allele": "A", "end": 890, "referenceAllele": "G", "start": 889 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721878.1:c.694G>A" ], "proteinEffect": { "hgvs": "XP_006721941.1:p.Val232Ile", "hgvsWellDefined": "XP_006721941.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS074295" }, { "coordinates": [ { "allele": "A", "end": 1118, "referenceAllele": "G", "start": 1117 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524753.1:c.694G>A" ], "proteinEffect": { "hgvs": "XP_011523055.1:p.Val232Ile", "hgvsWellDefined": "XP_011523055.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS091874" }, { "coordinates": [ { "allele": "A", "end": 1015, "referenceAllele": "G", "start": 1014 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524754.1:c.694G>A" ], "proteinEffect": { "hgvs": "XP_011523056.1:p.Val232Ile", "hgvsWellDefined": "XP_011523056.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS091875" }, { "coordinates": [ { "allele": "A", "end": 822, "referenceAllele": "G", "start": 821 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524755.1:c.694G>A" ], "proteinEffect": { "hgvs": "XP_011523057.1:p.Val232Ile", "hgvsWellDefined": "XP_011523057.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS091876" }, { "coordinates": [ { "allele": "A", "end": 720, "referenceAllele": "G", "start": 719 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524756.1:c.694G>A" ], "proteinEffect": { "hgvs": "XP_011523058.1:p.Val232Ile", "hgvsWellDefined": "XP_011523058.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS091877" }, { "coordinates": [ { "allele": "A", "end": 716, "referenceAllele": "G", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524757.1:c.694G>A" ], "proteinEffect": { "hgvs": "XP_011523059.1:p.Val232Ile", "hgvsWellDefined": "XP_011523059.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS091878" }, { "coordinates": [ { "allele": "A", "end": 716, "referenceAllele": "G", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524758.1:c.694G>A" ], "proteinEffect": { "hgvs": "XP_011523060.1:p.Val232Ile", "hgvsWellDefined": "XP_011523060.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS091879" }, { "@id": "http://reg.genome.network/allele/PA2827677635", "coordinates": [ { "allele": "A", "end": 905, "referenceAllele": "G", "start": 904 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352773.1:c.694G>A" ], "proteinEffect": { "hgvs": "NP_001339702.1:p.Val232Ile", "hgvsWellDefined": "NP_001339702.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS521173" }, { "@id": "http://reg.genome.network/allele/PA2827678503", "coordinates": [ { "allele": "A", "end": 880, "referenceAllele": "G", "start": 879 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352774.1:c.694G>A" ], "proteinEffect": { "hgvs": "NP_001339703.1:p.Val232Ile", "hgvsWellDefined": "NP_001339703.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS521174" }, { "@id": "http://reg.genome.network/allele/PA2827679371", "coordinates": [ { "allele": "A", "end": 902, "referenceAllele": "G", "start": 901 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352775.1:c.694G>A" ], "proteinEffect": { "hgvs": "NP_001339704.1:p.Val232Ile", "hgvsWellDefined": "NP_001339704.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS521175" }, { "@id": "http://reg.genome.network/allele/PA2827680239", "coordinates": [ { "allele": "A", "end": 992, "referenceAllele": "G", "start": 991 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352776.1:c.694G>A" ], "proteinEffect": { "hgvs": "NP_001339705.1:p.Val232Ile", "hgvsWellDefined": "NP_001339705.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS521176" }, { "@id": "http://reg.genome.network/allele/PA2827681107", "coordinates": [ { "allele": "A", "end": 895, "referenceAllele": "G", "start": 894 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352777.1:c.694G>A" ], "proteinEffect": { "hgvs": "NP_001339706.1:p.Val232Ile", "hgvsWellDefined": "NP_001339706.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS521177" }, { "@id": "http://reg.genome.network/allele/PA2829368386", "coordinates": [ { "allele": "A", "end": 883, "referenceAllele": "G", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_002230.3:c.694G>A" ], "proteinEffect": { "hgvs": "NP_002221.1:p.Val232Ile", "hgvsWellDefined": "NP_002221.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS524974" }, { "@id": "http://reg.genome.network/allele/PA658807444", "coordinates": [ { "allele": "A", "end": 883, "referenceAllele": "G", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_021991.3:c.694G>A" ], "proteinEffect": { "hgvs": "NP_068831.1:p.Val232Ile", "hgvsWellDefined": "NP_068831.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS526070" }, { "coordinates": [ { "allele": "A", "end": 840, "referenceAllele": "G", "start": 839 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721874.3:c.694G>A" ], "proteinEffect": { "hgvs": "XP_006721937.1:p.Val232Ile", "hgvsWellDefined": "XP_006721937.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS540404" }, { "coordinates": [ { "allele": "A", "end": 1113, "referenceAllele": "G", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524753.2:c.694G>A" ], "proteinEffect": { "hgvs": "XP_011523055.1:p.Val232Ile", "hgvsWellDefined": "XP_011523055.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS547581" }, { "coordinates": [ { "allele": "A", "end": 810, "referenceAllele": "G", "start": 809 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_017024588.2:c.745G>A" ], "proteinEffect": { "hgvs": "XP_016880077.1:p.Val249Ile", "hgvsWellDefined": "XP_016880077.1:p.Val249Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS575127" }, { "coordinates": [ { "allele": "A", "end": 716, "referenceAllele": "G", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_017024590.1:c.694G>A" ], "proteinEffect": { "hgvs": "XP_016880079.1:p.Val232Ile", "hgvsWellDefined": "XP_016880079.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS575128" }, { "@id": "http://reg.genome.network/allele/PA2829368386", "coordinates": [ { "allele": "A", "end": 826, "referenceAllele": "G", "start": 825 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_002230.4:c.694G>A" ], "proteinEffect": { "hgvs": "NP_002221.1:p.Val232Ile", "hgvsWellDefined": "NP_002221.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS665423", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393931.8:c.694G>A" }, "RefSeq": { "hgvs": "NM_002230.4:c.694G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377508.3:p.Val232Ile" }, "RefSeq": { "hgvs": "NP_002221.1:p.Val232Ile" } } } }, { "@id": "http://reg.genome.network/allele/PA2827677635", "coordinates": [ { "allele": "A", "end": 848, "referenceAllele": "G", "start": 847 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352773.2:c.694G>A" ], "proteinEffect": { "hgvs": "NP_001339702.1:p.Val232Ile", "hgvsWellDefined": "NP_001339702.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS720131" }, { "@id": "http://reg.genome.network/allele/PA2827678503", "coordinates": [ { "allele": "A", "end": 823, "referenceAllele": "G", "start": 822 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352774.2:c.694G>A" ], "proteinEffect": { "hgvs": "NP_001339703.1:p.Val232Ile", "hgvsWellDefined": "NP_001339703.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS720132" }, { "@id": "http://reg.genome.network/allele/PA2827679371", "coordinates": [ { "allele": "A", "end": 845, "referenceAllele": "G", "start": 844 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352775.2:c.694G>A" ], "proteinEffect": { "hgvs": "NP_001339704.1:p.Val232Ile", "hgvsWellDefined": "NP_001339704.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS720133" }, { "@id": "http://reg.genome.network/allele/PA2827680239", "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "G", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352776.2:c.694G>A" ], "proteinEffect": { "hgvs": "NP_001339705.1:p.Val232Ile", "hgvsWellDefined": "NP_001339705.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS720134" }, { "@id": "http://reg.genome.network/allele/PA2827681107", "coordinates": [ { "allele": "A", "end": 776, "referenceAllele": "G", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352777.2:c.694G>A" ], "proteinEffect": { "hgvs": "NP_001339706.1:p.Val232Ile", "hgvsWellDefined": "NP_001339706.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS720135" }, { "@id": "http://reg.genome.network/allele/PA658807444", "coordinates": [ { "allele": "A", "end": 826, "referenceAllele": "G", "start": 825 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_021991.4:c.694G>A" ], "proteinEffect": { "hgvs": "NP_068831.1:p.Val232Ile", "hgvsWellDefined": "NP_068831.1:p.Val232Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS728559" } ], "type": "nucleotide" }