{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA050715", "communityStandardTitle": [ "NM_000038.6(APC):c.8402G>A (p.Arg2801Gln)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=244459[alleleid]", "alleleId": 244459, "preferredName": "NM_000038.6(APC):c.8402G>A (p.Arg2801Gln)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/245699", "RCV": [ "RCV000235635", "RCV000581244", "RCV002518425", "RCV003535652", "RCV003998899" ], "variationId": 245699 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/5-112179693-G-A", "id": "5-112179693-G-A", "variant": "5:112179693 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112179693G>A?assembly=hg19", "id": "chr5:g.112179693G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112843996G>A?assembly=hg38", "id": "chr5:g.112843996G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/754363694", "rs": 754363694 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112179693-G-A?dataset=gnomad_r2_1", "id": "5-112179693-G-A", "variant": "5:112179693 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112843996-G-A?dataset=gnomad_r3", "id": "5-112843996-G-A", "variant": "5:112843996 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112843996-G-A?dataset=gnomad_r4", "id": "5-112843996-G-A", "variant": "5:112843996 G / A" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 112843996, "referenceAllele": "G", "start": 112843995 } ], "hgvs": [ "NC_000005.10:g.112843996G>A", "CM000667.2:g.112843996G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 112179693, "referenceAllele": "G", "start": 112179692 } ], "hgvs": [ "NC_000005.9:g.112179693G>A", "CM000667.1:g.112179693G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 112207592, "referenceAllele": "G", "start": 112207591 } ], "hgvs": [ "NC_000005.8:g.112207592G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 156476, "referenceAllele": "G", "start": 156475 } ], "hgvs": [ "NG_008481.4:g.156476G>A", "LRG_130:g.156476G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001117" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 8512, "referenceAllele": "G", "start": 8511 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000504915.3:c.8456G>A" ], "proteinEffect": { "hgvs": "ENSP00000473355.2:p.Arg2819Gln", "hgvsWellDefined": "ENSP00000473355.2:p.Arg2819Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS914183" }, { "coordinates": [ { "allele": "A", "end": 8782, "referenceAllele": "G", "start": 8781 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000505350.2:c.*8408G>A" ], "proteinEffect": { "hgvs": "ENSP00000481752.1:n.*8408G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914185" }, { "coordinates": [ { "allele": "A", "end": 8544, "referenceAllele": "G", "start": 8543 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000507379.6:c.8348G>A" ], "proteinEffect": { "hgvs": "ENSP00000423224.2:p.Arg2783Gln", "hgvsWellDefined": "ENSP00000423224.2:p.Arg2783Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS914189" }, { "coordinates": [ { "allele": "A", "end": 8552, "referenceAllele": "G", "start": 8551 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000509732.6:c.8402G>A" ], "proteinEffect": { "hgvs": "ENSP00000426541.2:p.Arg2801Gln", "hgvsWellDefined": "ENSP00000426541.2:p.Arg2801Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS914195" }, { "coordinates": [ { "allele": "A", "end": 8753, "referenceAllele": "G", "start": 8752 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000512211.7:c.8402G>A" ], "proteinEffect": { "hgvs": "ENSP00000423828.3:p.Arg2801Gln", "hgvsWellDefined": "ENSP00000423828.3:p.Arg2801Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS914202" }, { "coordinates": [ { "allele": "A", "end": 8461, "referenceAllele": "G", "start": 8460 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.9:c.8402G>A" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Arg2801Gln", "hgvsWellDefined": "ENSP00000257430.4:p.Arg2801Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS741831", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.8402G>A" }, "RefSeq": { "hgvs": "NM_000038.6:c.8402G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Arg2801Gln" }, "RefSeq": { "hgvs": "NP_000029.2:p.Arg2801Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 8458, "referenceAllele": "G", "start": 8457 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.8:c.8402G>A" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Arg2801Gln", "hgvsWellDefined": "ENSP00000257430.4:p.Arg2801Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS247400" }, { "coordinates": [ { "allele": "A", "end": 8559, "referenceAllele": "G", "start": 8558 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508376.6:c.8402G>A" ], "proteinEffect": { "hgvs": "ENSP00000427089.2:p.Arg2801Gln", "hgvsWellDefined": "ENSP00000427089.2:p.Arg2801Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS247198" }, { "coordinates": [ { "allele": "A", "end": 230, "endIntronDirection": "-", "endIntronOffset": 12652, "referenceAllele": "G", "start": 230, "startIntronDirection": "-", "startIntronOffset": 12653 } ], "hgvs": [ "ENST00000520401.1:c.231-12653G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS347453" }, { "@id": "http://reg.genome.network/allele/PA16040164", "coordinates": [ { "allele": "A", "end": 8487, "referenceAllele": "G", "start": 8486 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.5:c.8402G>A" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Arg2801Gln", "hgvsWellDefined": "NP_000029.2:p.Arg2801Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS006103" }, { "@id": "http://reg.genome.network/allele/PA645403648", "coordinates": [ { "allele": "A", "end": 8595, "referenceAllele": "G", "start": 8594 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.2:c.8402G>A" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Arg2801Gln", "hgvsWellDefined": "NP_001120982.1:p.Arg2801Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS011634" }, { "@id": "http://reg.genome.network/allele/PA2825645261", "coordinates": [ { "allele": "A", "end": 8561, "referenceAllele": "G", "start": 8560 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.2:c.8348G>A" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Arg2783Gln", "hgvsWellDefined": "NP_001120983.2:p.Arg2783Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS011635" }, { "@id": "http://reg.genome.network/allele/PA2827948518", "coordinates": [ { "allele": "A", "end": 8798, "referenceAllele": "G", "start": 8797 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.1:c.8402G>A" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Arg2801Gln", "hgvsWellDefined": "NP_001341824.1:p.Arg2801Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522733" }, { "@id": "http://reg.genome.network/allele/PA916041815", "coordinates": [ { "allele": "A", "end": 8541, "referenceAllele": "G", "start": 8540 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.1:c.8456G>A" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Arg2819Gln", "hgvsWellDefined": "NP_001341825.1:p.Arg2819Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522734" }, { "@id": "http://reg.genome.network/allele/PA2827963206", "coordinates": [ { "allele": "A", "end": 8645, "referenceAllele": "G", "start": 8644 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.1:c.8432G>A" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Arg2811Gln", "hgvsWellDefined": "NP_001341826.1:p.Arg2811Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522735" }, { "@id": "http://reg.genome.network/allele/PA2827972343", "coordinates": [ { "allele": "A", "end": 8442, "referenceAllele": "G", "start": 8441 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.1:c.8327G>A" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Arg2776Gln", "hgvsWellDefined": "NP_001341827.1:p.Arg2776Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522736" }, { "@id": "http://reg.genome.network/allele/PA2827981519", "coordinates": [ { "allele": "A", "end": 8403, "referenceAllele": "G", "start": 8402 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.1:c.8318G>A" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Arg2773Gln", "hgvsWellDefined": "NP_001341828.1:p.Arg2773Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522737" }, { "@id": "http://reg.genome.network/allele/PA2827990595", "coordinates": [ { "allele": "A", "end": 8388, "referenceAllele": "G", "start": 8387 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.1:c.8279G>A" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Arg2760Gln", "hgvsWellDefined": "NP_001341829.1:p.Arg2760Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522738" }, { "@id": "http://reg.genome.network/allele/PA2827999662", "coordinates": [ { "allele": "A", "end": 8334, "referenceAllele": "G", "start": 8333 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.1:c.8225G>A" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Arg2742Gln", "hgvsWellDefined": "NP_001341830.1:p.Arg2742Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522739" }, { "@id": "http://reg.genome.network/allele/PA2828004599", "coordinates": [ { "allele": "A", "end": 8342, "referenceAllele": "G", "start": 8341 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.1:c.8129G>A" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Arg2710Gln", "hgvsWellDefined": "NP_001341831.1:p.Arg2710Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522740" }, { "@id": "http://reg.genome.network/allele/PA2828030623", "coordinates": [ { "allele": "A", "end": 8184, "referenceAllele": "G", "start": 8183 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.1:c.8099G>A" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Arg2700Gln", "hgvsWellDefined": "NP_001341832.1:p.Arg2700Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522741" }, { "@id": "http://reg.genome.network/allele/PA2828049973", "coordinates": [ { "allele": "A", "end": 8139, "referenceAllele": "G", "start": 8138 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.1:c.8024G>A" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Arg2675Gln", "hgvsWellDefined": "NP_001341833.1:p.Arg2675Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522742" }, { "@id": "http://reg.genome.network/allele/PA2828014101", "coordinates": [ { "allele": "A", "end": 8031, "referenceAllele": "G", "start": 8030 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.1:c.7922G>A" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Arg2641Gln", "hgvsWellDefined": "NP_001341834.1:p.Arg2641Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522743" }, { "@id": "http://reg.genome.network/allele/PA2828030428", "coordinates": [ { "allele": "A", "end": 8673, "referenceAllele": "G", "start": 8672 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.1:c.7553G>A" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Arg2518Gln", "hgvsWellDefined": "NP_001341835.1:p.Arg2518Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522744" }, { "@id": "http://reg.genome.network/allele/PA16040164", "coordinates": [ { "allele": "A", "end": 8461, "referenceAllele": "G", "start": 8460 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.6:c.8402G>A" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Arg2801Gln", "hgvsWellDefined": "NP_000029.2:p.Arg2801Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS662295", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.8402G>A" }, "RefSeq": { "hgvs": "NM_000038.6:c.8402G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Arg2801Gln" }, "RefSeq": { "hgvs": "NP_000029.2:p.Arg2801Gln" } } } }, { "@id": "http://reg.genome.network/allele/PA645403648", "coordinates": [ { "allele": "A", "end": 8569, "referenceAllele": "G", "start": 8568 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.3:c.8402G>A" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Arg2801Gln", "hgvsWellDefined": "NP_001120982.1:p.Arg2801Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS676902" }, { "@id": "http://reg.genome.network/allele/PA2825645261", "coordinates": [ { "allele": "A", "end": 8568, "referenceAllele": "G", "start": 8567 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.3:c.8348G>A" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Arg2783Gln", "hgvsWellDefined": "NP_001120983.2:p.Arg2783Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS676903" }, { "@id": "http://reg.genome.network/allele/PA2827948518", "coordinates": [ { "allele": "A", "end": 8805, "referenceAllele": "G", "start": 8804 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.2:c.8402G>A" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Arg2801Gln", "hgvsWellDefined": "NP_001341824.1:p.Arg2801Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS690347" }, { "@id": "http://reg.genome.network/allele/PA916041815", "coordinates": [ { "allele": "A", "end": 8515, "referenceAllele": "G", "start": 8514 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.2:c.8456G>A" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Arg2819Gln", "hgvsWellDefined": "NP_001341825.1:p.Arg2819Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS690348" }, { "@id": "http://reg.genome.network/allele/PA2827963206", "coordinates": [ { "allele": "A", "end": 8652, "referenceAllele": "G", "start": 8651 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.2:c.8432G>A" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Arg2811Gln", "hgvsWellDefined": "NP_001341826.1:p.Arg2811Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS690349" }, { "@id": "http://reg.genome.network/allele/PA2827972343", "coordinates": [ { "allele": "A", "end": 8416, "referenceAllele": "G", "start": 8415 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.2:c.8327G>A" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Arg2776Gln", "hgvsWellDefined": "NP_001341827.1:p.Arg2776Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS690350" }, { "@id": "http://reg.genome.network/allele/PA2827981519", "coordinates": [ { "allele": "A", "end": 8377, "referenceAllele": "G", "start": 8376 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.2:c.8318G>A" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Arg2773Gln", "hgvsWellDefined": "NP_001341828.1:p.Arg2773Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS690351" }, { "@id": "http://reg.genome.network/allele/PA2827990595", "coordinates": [ { "allele": "A", "end": 8362, "referenceAllele": "G", "start": 8361 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.2:c.8279G>A" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Arg2760Gln", "hgvsWellDefined": "NP_001341829.1:p.Arg2760Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS690352" }, { "@id": "http://reg.genome.network/allele/PA2827999662", "coordinates": [ { "allele": "A", "end": 8308, "referenceAllele": "G", "start": 8307 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.2:c.8225G>A" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Arg2742Gln", "hgvsWellDefined": "NP_001341830.1:p.Arg2742Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS690353" }, { "@id": "http://reg.genome.network/allele/PA2828004599", "coordinates": [ { "allele": "A", "end": 8349, "referenceAllele": "G", "start": 8348 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.2:c.8129G>A" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Arg2710Gln", "hgvsWellDefined": "NP_001341831.1:p.Arg2710Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS690354" }, { "@id": "http://reg.genome.network/allele/PA2828030623", "coordinates": [ { "allele": "A", "end": 8158, "referenceAllele": "G", "start": 8157 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.2:c.8099G>A" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Arg2700Gln", "hgvsWellDefined": "NP_001341832.1:p.Arg2700Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS690355" }, { "@id": "http://reg.genome.network/allele/PA2828049973", "coordinates": [ { "allele": "A", "end": 8113, "referenceAllele": "G", "start": 8112 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.2:c.8024G>A" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Arg2675Gln", "hgvsWellDefined": "NP_001341833.1:p.Arg2675Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS690356" }, { "@id": "http://reg.genome.network/allele/PA2828014101", "coordinates": [ { "allele": "A", "end": 8005, "referenceAllele": "G", "start": 8004 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.2:c.7922G>A" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Arg2641Gln", "hgvsWellDefined": "NP_001341834.1:p.Arg2641Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS690357" }, { "@id": "http://reg.genome.network/allele/PA2828030428", "coordinates": [ { "allele": "A", "end": 8647, "referenceAllele": "G", "start": 8646 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.2:c.7553G>A" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Arg2518Gln", "hgvsWellDefined": "NP_001341835.1:p.Arg2518Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS690358" } ], "type": "nucleotide" }