{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA007574", "communityStandardTitle": [ "NM_000038.6(APC):c.2534G>A (p.Arg845His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186031[alleleid]", "alleleId": 186031, "preferredName": "NM_000038.6(APC):c.2534G>A (p.Arg845His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188210", "RCV": [ "RCV000168139", "RCV000485635", "RCV000569311", "RCV003316066", "RCV003995609" ], "variationId": 188210 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/5-112173825-G-A", "id": "5-112173825-G-A", "variant": "5:112173825 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112173825G>A?assembly=hg19", "id": "chr5:g.112173825G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112838128G>A?assembly=hg38", "id": "chr5:g.112838128G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/776878597", "rs": 776878597 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112173825-G-A?dataset=gnomad_r2_1", "id": "5-112173825-G-A", "variant": "5:112173825 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112838128-G-A?dataset=gnomad_r3", "id": "5-112838128-G-A", "variant": "5:112838128 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112838128-G-A?dataset=gnomad_r4", "id": "5-112838128-G-A", "variant": "5:112838128 G / A" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 112838128, "referenceAllele": "G", "start": 112838127 } ], "hgvs": [ "NC_000005.10:g.112838128G>A", "CM000667.2:g.112838128G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 112173825, "referenceAllele": "G", "start": 112173824 } ], "hgvs": [ "NC_000005.9:g.112173825G>A", "CM000667.1:g.112173825G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 112201724, "referenceAllele": "G", "start": 112201723 } ], "hgvs": [ "NC_000005.8:g.112201724G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 150608, "referenceAllele": "G", "start": 150607 } ], "hgvs": [ "NG_008481.4:g.150608G>A", "LRG_130:g.150608G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001117" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2199, "referenceAllele": "G", "start": 2198 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000502371.3:c.2199G>A" ], "proteinEffect": { "hgvs": "ENSP00000484935.2:n.2199G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914176" }, { "coordinates": [ { "allele": "A", "end": 2644, "referenceAllele": "G", "start": 2643 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000504915.3:c.2588G>A" ], "proteinEffect": { "hgvs": "ENSP00000473355.2:p.Arg863His", "hgvsWellDefined": "ENSP00000473355.2:p.Arg863His" }, "referenceSequence": "http://reg.genome.network/refseq/RS914183" }, { "coordinates": [ { "allele": "A", "end": 2914, "referenceAllele": "G", "start": 2913 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000505350.2:c.*2540G>A" ], "proteinEffect": { "hgvs": "ENSP00000481752.1:n.*2540G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914185" }, { "coordinates": [ { "allele": "A", "end": 2676, "referenceAllele": "G", "start": 2675 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000507379.6:c.2480G>A" ], "proteinEffect": { "hgvs": "ENSP00000423224.2:p.Arg827His", "hgvsWellDefined": "ENSP00000423224.2:p.Arg827His" }, "referenceSequence": "http://reg.genome.network/refseq/RS914189" }, { "coordinates": [ { "allele": "A", "end": 2684, "referenceAllele": "G", "start": 2683 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000509732.6:c.2534G>A" ], "proteinEffect": { "hgvs": "ENSP00000426541.2:p.Arg845His", "hgvsWellDefined": "ENSP00000426541.2:p.Arg845His" }, "referenceSequence": "http://reg.genome.network/refseq/RS914195" }, { "coordinates": [ { "allele": "A", "end": 2885, "referenceAllele": "G", "start": 2884 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000512211.7:c.2534G>A" ], "proteinEffect": { "hgvs": "ENSP00000423828.3:p.Arg845His", "hgvsWellDefined": "ENSP00000423828.3:p.Arg845His" }, "referenceSequence": "http://reg.genome.network/refseq/RS914202" }, { "coordinates": [ { "allele": "A", "end": 2593, "referenceAllele": "G", "start": 2592 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.9:c.2534G>A" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Arg845His", "hgvsWellDefined": "ENSP00000257430.4:p.Arg845His" }, "referenceSequence": "http://reg.genome.network/refseq/RS741831", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.2534G>A" }, "RefSeq": { "hgvs": "NM_000038.6:c.2534G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Arg845His" }, "RefSeq": { "hgvs": "NP_000029.2:p.Arg845His" } } } }, { "coordinates": [ { "allele": "A", "end": 2590, "referenceAllele": "G", "start": 2589 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.8:c.2534G>A" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Arg845His", "hgvsWellDefined": "ENSP00000257430.4:p.Arg845His" }, "referenceSequence": "http://reg.genome.network/refseq/RS247400" }, { "coordinates": [ { "allele": "A", "end": 887, "referenceAllele": "G", "start": 886 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000502371.2:c.887G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS334951" }, { "coordinates": [ { "allele": "A", "end": 2676, "referenceAllele": "G", "start": 2675 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000507379.5:c.2480G>A" ], "proteinEffect": { "hgvs": "ENSP00000423224.1:p.Arg827His", "hgvsWellDefined": "ENSP00000423224.1:p.Arg827His" }, "referenceSequence": "http://reg.genome.network/refseq/RS247315" }, { "coordinates": [ { "allele": "A", "end": 2691, "referenceAllele": "G", "start": 2690 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508376.6:c.2534G>A" ], "proteinEffect": { "hgvs": "ENSP00000427089.2:p.Arg845His", "hgvsWellDefined": "ENSP00000427089.2:p.Arg845His" }, "referenceSequence": "http://reg.genome.network/refseq/RS247198" }, { "coordinates": [ { "allele": "A", "end": 2779, "referenceAllele": "G", "start": 2778 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508624.5:c.*1856G>A" ], "proteinEffect": { "hgvs": "ENSP00000424265.1:n.*1856G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS339602" }, { "coordinates": [ { "allele": "A", "end": 2681, "referenceAllele": "G", "start": 2680 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000512211.6:c.2534G>A" ], "proteinEffect": { "hgvs": "ENSP00000423828.2:p.Arg845His", "hgvsWellDefined": "ENSP00000423828.2:p.Arg845His" }, "referenceSequence": "http://reg.genome.network/refseq/RS247286" }, { "coordinates": [ { "allele": "A", "end": 230, "endIntronDirection": "+", "endIntronOffset": 9156, "referenceAllele": "G", "start": 230, "startIntronDirection": "+", "startIntronOffset": 9155 } ], "hgvs": [ "ENST00000520401.1:c.230+9156G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS347453" }, { "@id": "http://reg.genome.network/allele/PA334340", "coordinates": [ { "allele": "A", "end": 2619, "referenceAllele": "G", "start": 2618 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.5:c.2534G>A" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Arg845His", "hgvsWellDefined": "NP_000029.2:p.Arg845His" }, "referenceSequence": "http://reg.genome.network/refseq/RS006103" }, { "@id": "http://reg.genome.network/allele/PA334341", "coordinates": [ { "allele": "A", "end": 2727, "referenceAllele": "G", "start": 2726 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.2:c.2534G>A" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Arg845His", "hgvsWellDefined": "NP_001120982.1:p.Arg845His" }, "referenceSequence": "http://reg.genome.network/refseq/RS011634" }, { "@id": "http://reg.genome.network/allele/PA334339", "coordinates": [ { "allele": "A", "end": 2693, "referenceAllele": "G", "start": 2692 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.2:c.2480G>A" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Arg827His", "hgvsWellDefined": "NP_001120983.2:p.Arg827His" }, "referenceSequence": "http://reg.genome.network/refseq/RS011635" }, { "@id": "http://reg.genome.network/allele/PA2827942045", "coordinates": [ { "allele": "A", "end": 2930, "referenceAllele": "G", "start": 2929 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.1:c.2534G>A" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Arg845His", "hgvsWellDefined": "NP_001341824.1:p.Arg845His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522733" }, { "@id": "http://reg.genome.network/allele/PA916039890", "coordinates": [ { "allele": "A", "end": 2673, "referenceAllele": "G", "start": 2672 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.1:c.2588G>A" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Arg863His", "hgvsWellDefined": "NP_001341825.1:p.Arg863His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522734" }, { "@id": "http://reg.genome.network/allele/PA2827956736", "coordinates": [ { "allele": "A", "end": 2777, "referenceAllele": "G", "start": 2776 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.1:c.2564G>A" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Arg855His", "hgvsWellDefined": "NP_001341826.1:p.Arg855His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522735" }, { "@id": "http://reg.genome.network/allele/PA2827965877", "coordinates": [ { "allele": "A", "end": 2574, "referenceAllele": "G", "start": 2573 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.1:c.2459G>A" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Arg820His", "hgvsWellDefined": "NP_001341827.1:p.Arg820His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522736" }, { "@id": "http://reg.genome.network/allele/PA2827975034", "coordinates": [ { "allele": "A", "end": 2535, "referenceAllele": "G", "start": 2534 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.1:c.2450G>A" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Arg817His", "hgvsWellDefined": "NP_001341828.1:p.Arg817His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522737" }, { "@id": "http://reg.genome.network/allele/PA2827984134", "coordinates": [ { "allele": "A", "end": 2520, "referenceAllele": "G", "start": 2519 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.1:c.2411G>A" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Arg804His", "hgvsWellDefined": "NP_001341829.1:p.Arg804His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522738" }, { "@id": "http://reg.genome.network/allele/PA2827993209", "coordinates": [ { "allele": "A", "end": 2466, "referenceAllele": "G", "start": 2465 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.1:c.2357G>A" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Arg786His", "hgvsWellDefined": "NP_001341830.1:p.Arg786His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522739" }, { "@id": "http://reg.genome.network/allele/PA2828001047", "coordinates": [ { "allele": "A", "end": 2474, "referenceAllele": "G", "start": 2473 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.1:c.2261G>A" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Arg754His", "hgvsWellDefined": "NP_001341831.1:p.Arg754His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522740" }, { "@id": "http://reg.genome.network/allele/PA2828017830", "coordinates": [ { "allele": "A", "end": 2316, "referenceAllele": "G", "start": 2315 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.1:c.2231G>A" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Arg744His", "hgvsWellDefined": "NP_001341832.1:p.Arg744His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522741" }, { "@id": "http://reg.genome.network/allele/PA2828035343", "coordinates": [ { "allele": "A", "end": 2271, "referenceAllele": "G", "start": 2270 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.1:c.2156G>A" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Arg719His", "hgvsWellDefined": "NP_001341833.1:p.Arg719His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522742" }, { "@id": "http://reg.genome.network/allele/PA2828054718", "coordinates": [ { "allele": "A", "end": 2163, "referenceAllele": "G", "start": 2162 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.1:c.2054G>A" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Arg685His", "hgvsWellDefined": "NP_001341834.1:p.Arg685His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522743" }, { "@id": "http://reg.genome.network/allele/PA2828017756", "coordinates": [ { "allele": "A", "end": 2805, "referenceAllele": "G", "start": 2804 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.1:c.1685G>A" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Arg562His", "hgvsWellDefined": "NP_001341835.1:p.Arg562His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522744" }, { "@id": "http://reg.genome.network/allele/PA334340", "coordinates": [ { "allele": "A", "end": 2593, "referenceAllele": "G", "start": 2592 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.6:c.2534G>A" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Arg845His", "hgvsWellDefined": "NP_000029.2:p.Arg845His" }, "referenceSequence": "http://reg.genome.network/refseq/RS662295", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.2534G>A" }, "RefSeq": { "hgvs": "NM_000038.6:c.2534G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Arg845His" }, "RefSeq": { "hgvs": "NP_000029.2:p.Arg845His" } } } }, { "@id": "http://reg.genome.network/allele/PA334341", "coordinates": [ { "allele": "A", "end": 2701, "referenceAllele": "G", "start": 2700 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.3:c.2534G>A" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Arg845His", "hgvsWellDefined": "NP_001120982.1:p.Arg845His" }, "referenceSequence": "http://reg.genome.network/refseq/RS676902" }, { "@id": "http://reg.genome.network/allele/PA334339", "coordinates": [ { "allele": "A", "end": 2700, "referenceAllele": "G", "start": 2699 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.3:c.2480G>A" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Arg827His", "hgvsWellDefined": "NP_001120983.2:p.Arg827His" }, "referenceSequence": "http://reg.genome.network/refseq/RS676903" }, { "@id": "http://reg.genome.network/allele/PA2827942045", "coordinates": [ { "allele": "A", "end": 2937, "referenceAllele": "G", "start": 2936 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.2:c.2534G>A" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Arg845His", "hgvsWellDefined": "NP_001341824.1:p.Arg845His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690347" }, { "@id": "http://reg.genome.network/allele/PA916039890", "coordinates": [ { "allele": "A", "end": 2647, "referenceAllele": "G", "start": 2646 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.2:c.2588G>A" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Arg863His", "hgvsWellDefined": "NP_001341825.1:p.Arg863His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690348" }, { "@id": "http://reg.genome.network/allele/PA2827956736", "coordinates": [ { "allele": "A", "end": 2784, "referenceAllele": "G", "start": 2783 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.2:c.2564G>A" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Arg855His", "hgvsWellDefined": "NP_001341826.1:p.Arg855His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690349" }, { "@id": "http://reg.genome.network/allele/PA2827965877", "coordinates": [ { "allele": "A", "end": 2548, "referenceAllele": "G", "start": 2547 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.2:c.2459G>A" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Arg820His", "hgvsWellDefined": "NP_001341827.1:p.Arg820His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690350" }, { "@id": "http://reg.genome.network/allele/PA2827975034", "coordinates": [ { "allele": "A", "end": 2509, "referenceAllele": "G", "start": 2508 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.2:c.2450G>A" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Arg817His", "hgvsWellDefined": "NP_001341828.1:p.Arg817His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690351" }, { "@id": "http://reg.genome.network/allele/PA2827984134", "coordinates": [ { "allele": "A", "end": 2494, "referenceAllele": "G", "start": 2493 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.2:c.2411G>A" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Arg804His", "hgvsWellDefined": "NP_001341829.1:p.Arg804His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690352" }, { "@id": "http://reg.genome.network/allele/PA2827993209", "coordinates": [ { "allele": "A", "end": 2440, "referenceAllele": "G", "start": 2439 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.2:c.2357G>A" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Arg786His", "hgvsWellDefined": "NP_001341830.1:p.Arg786His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690353" }, { "@id": "http://reg.genome.network/allele/PA2828001047", "coordinates": [ { "allele": "A", "end": 2481, "referenceAllele": "G", "start": 2480 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.2:c.2261G>A" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Arg754His", "hgvsWellDefined": "NP_001341831.1:p.Arg754His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690354" }, { "@id": "http://reg.genome.network/allele/PA2828017830", "coordinates": [ { "allele": "A", "end": 2290, "referenceAllele": "G", "start": 2289 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.2:c.2231G>A" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Arg744His", "hgvsWellDefined": "NP_001341832.1:p.Arg744His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690355" }, { "@id": "http://reg.genome.network/allele/PA2828035343", "coordinates": [ { "allele": "A", "end": 2245, "referenceAllele": "G", "start": 2244 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.2:c.2156G>A" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Arg719His", "hgvsWellDefined": "NP_001341833.1:p.Arg719His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690356" }, { "@id": "http://reg.genome.network/allele/PA2828054718", "coordinates": [ { "allele": "A", "end": 2137, "referenceAllele": "G", "start": 2136 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.2:c.2054G>A" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Arg685His", "hgvsWellDefined": "NP_001341834.1:p.Arg685His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690357" }, { "@id": "http://reg.genome.network/allele/PA2828017756", "coordinates": [ { "allele": "A", "end": 2779, "referenceAllele": "G", "start": 2778 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.2:c.1685G>A" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Arg562His", "hgvsWellDefined": "NP_001341835.1:p.Arg562His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690358" } ], "type": "nucleotide" }