{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA338613", "communityStandardTitle": [ "NM_000038.6(APC):c.423G>T (p.Arg141Ser)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=48235", "active": true, "id": "COSM48235" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=212389[alleleid]", "alleleId": 212389, "preferredName": "NM_000038.6(APC):c.423G>T (p.Arg141Ser)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/216017", "RCV": [ "RCV000199388", "RCV000501209", "RCV001270008", "RCV001853212" ], "variationId": 216017 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112111326G>T?assembly=hg19", "id": "chr5:g.112111326G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112775629G>T?assembly=hg38", "id": "chr5:g.112775629G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/863224458", "rs": 863224458 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112775629-G-T?dataset=gnomad_r4", "id": "5-112775629-G-T", "variant": "5:112775629 G / T" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 112775629, "referenceAllele": "G", "start": 112775628 } ], "hgvs": [ "NC_000005.10:g.112775629G>T", "CM000667.2:g.112775629G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 112111326, "referenceAllele": "G", "start": 112111325 } ], "hgvs": [ "NC_000005.9:g.112111326G>T", "CM000667.1:g.112111326G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 112139225, "referenceAllele": "G", "start": 112139224 } ], "hgvs": [ "NC_000005.8:g.112139225G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 88109, "referenceAllele": "G", "start": 88108 } ], "hgvs": [ "NG_008481.4:g.88109G>T", "LRG_130:g.88109G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001117" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 423, "referenceAllele": "G", "start": 422 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000502371.3:c.423G>T" ], "proteinEffect": { "hgvs": "ENSP00000484935.2:p.Arg141Ser", "hgvsWellDefined": "ENSP00000484935.2:p.Arg141Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS914176" }, { "coordinates": [ { "allele": "T", "end": 479, "referenceAllele": "G", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000504915.3:c.423G>T" ], "proteinEffect": { "hgvs": "ENSP00000473355.2:p.Arg141Ser", "hgvsWellDefined": "ENSP00000473355.2:p.Arg141Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS914183" }, { "coordinates": [ { "allele": "T", "end": 479, "referenceAllele": "G", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000505084.2:n.479G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS914184" }, { "coordinates": [ { "allele": "T", "end": 803, "referenceAllele": "G", "start": 802 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000505350.2:c.*429G>T" ], "proteinEffect": { "hgvs": "ENSP00000481752.1:n.*429G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914185" }, { "coordinates": [ { "allele": "T", "end": 649, "referenceAllele": "G", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000507379.6:c.453G>T" ], "proteinEffect": { "hgvs": "ENSP00000423224.2:p.Arg151Ser", "hgvsWellDefined": "ENSP00000423224.2:p.Arg151Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS914189" }, { "coordinates": [ { "allele": "T", "end": 573, "referenceAllele": "G", "start": 572 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000509732.6:c.423G>T" ], "proteinEffect": { "hgvs": "ENSP00000426541.2:p.Arg141Ser", "hgvsWellDefined": "ENSP00000426541.2:p.Arg141Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS914195" }, { "coordinates": [ { "allele": "T", "end": 774, "referenceAllele": "G", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000512211.7:c.423G>T" ], "proteinEffect": { "hgvs": "ENSP00000423828.3:p.Arg141Ser", "hgvsWellDefined": "ENSP00000423828.3:p.Arg141Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS914202" }, { "coordinates": [ { "allele": "T", "end": 482, "referenceAllele": "G", "start": 481 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.9:c.423G>T" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Arg141Ser", "hgvsWellDefined": "ENSP00000257430.4:p.Arg141Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS741831", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.423G>T" }, "RefSeq": { "hgvs": "NM_000038.6:c.423G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Arg141Ser" }, "RefSeq": { "hgvs": "NP_000029.2:p.Arg141Ser" } } } }, { "coordinates": [ { "allele": "T", "end": 479, "referenceAllele": "G", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.8:c.423G>T" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Arg141Ser", "hgvsWellDefined": "ENSP00000257430.4:p.Arg141Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS247400" }, { "coordinates": [ { "allele": "T", "end": 649, "referenceAllele": "G", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000507379.5:c.453G>T" ], "proteinEffect": { "hgvs": "ENSP00000423224.1:p.Arg151Ser", "hgvsWellDefined": "ENSP00000423224.1:p.Arg151Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS247315" }, { "coordinates": [ { "allele": "T", "end": 580, "referenceAllele": "G", "start": 579 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508376.6:c.423G>T" ], "proteinEffect": { "hgvs": "ENSP00000427089.2:p.Arg141Ser", "hgvsWellDefined": "ENSP00000427089.2:p.Arg141Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS247198" }, { "coordinates": [ { "allele": "T", "end": 482, "referenceAllele": "G", "start": 481 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508624.5:c.423G>T" ], "proteinEffect": { "hgvs": "ENSP00000424265.1:p.Arg141Ser", "hgvsWellDefined": "ENSP00000424265.1:p.Arg141Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS339602" }, { "coordinates": [ { "allele": "T", "end": 570, "referenceAllele": "G", "start": 569 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000512211.6:c.423G>T" ], "proteinEffect": { "hgvs": "ENSP00000423828.2:p.Arg141Ser", "hgvsWellDefined": "ENSP00000423828.2:p.Arg141Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS247286" }, { "@id": "http://reg.genome.network/allele/PA338616", "coordinates": [ { "allele": "T", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.5:c.423G>T" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Arg141Ser", "hgvsWellDefined": "NP_000029.2:p.Arg141Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS006103" }, { "@id": "http://reg.genome.network/allele/PA338617", "coordinates": [ { "allele": "T", "end": 616, "referenceAllele": "G", "start": 615 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.2:c.423G>T" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Arg141Ser", "hgvsWellDefined": "NP_001120982.1:p.Arg141Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS011634" }, { "@id": "http://reg.genome.network/allele/PA338618", "coordinates": [ { "allele": "T", "end": 666, "referenceAllele": "G", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.2:c.453G>T" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Arg151Ser", "hgvsWellDefined": "NP_001120983.2:p.Arg151Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS011635" }, { "@id": "http://reg.genome.network/allele/PA2827939872", "coordinates": [ { "allele": "T", "end": 819, "referenceAllele": "G", "start": 818 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.1:c.423G>T" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Arg141Ser", "hgvsWellDefined": "NP_001341824.1:p.Arg141Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS522733" }, { "@id": "http://reg.genome.network/allele/PA2827949092", "coordinates": [ { "allele": "T", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.1:c.423G>T" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Arg141Ser", "hgvsWellDefined": "NP_001341825.1:p.Arg141Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS522734" }, { "@id": "http://reg.genome.network/allele/PA2827954735", "coordinates": [ { "allele": "T", "end": 666, "referenceAllele": "G", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.1:c.453G>T" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Arg151Ser", "hgvsWellDefined": "NP_001341826.1:p.Arg151Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS522735" }, { "@id": "http://reg.genome.network/allele/PA2827963699", "coordinates": [ { "allele": "T", "end": 463, "referenceAllele": "G", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.1:c.348G>T" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Arg116Ser", "hgvsWellDefined": "NP_001341827.1:p.Arg116Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS522736" }, { "@id": "http://reg.genome.network/allele/PA2827972948", "coordinates": [ { "allele": "T", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.1:c.423G>T" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Arg141Ser", "hgvsWellDefined": "NP_001341828.1:p.Arg141Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS522737" }, { "@id": "http://reg.genome.network/allele/PA2827981958", "coordinates": [ { "allele": "T", "end": 355, "referenceAllele": "G", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.1:c.246G>T" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Arg82Ser", "hgvsWellDefined": "NP_001341829.1:p.Arg82Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS522738" }, { "@id": "http://reg.genome.network/allele/PA2827991037", "coordinates": [ { "allele": "T", "end": 355, "referenceAllele": "G", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.1:c.246G>T" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Arg82Ser", "hgvsWellDefined": "NP_001341830.1:p.Arg82Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS522739" }, { "@id": "http://reg.genome.network/allele/PA2827999989", "coordinates": [ { "allele": "T", "end": 666, "referenceAllele": "G", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.1:c.453G>T" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Arg151Ser", "hgvsWellDefined": "NP_001341831.1:p.Arg151Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS522740" }, { "@id": "http://reg.genome.network/allele/PA2828014242", "coordinates": [ { "allele": "T", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.1:c.423G>T" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Arg141Ser", "hgvsWellDefined": "NP_001341832.1:p.Arg141Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS522741" }, { "@id": "http://reg.genome.network/allele/PA2828031229", "coordinates": [ { "allele": "T", "end": 463, "referenceAllele": "G", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.1:c.348G>T" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Arg116Ser", "hgvsWellDefined": "NP_001341833.1:p.Arg116Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS522742" }, { "@id": "http://reg.genome.network/allele/PA916042461", "coordinates": [ { "allele": "T", "end": 355, "referenceAllele": "G", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.1:c.246G>T" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Arg82Ser", "hgvsWellDefined": "NP_001341834.1:p.Arg82Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS522743" }, { "coordinates": [ { "allele": "T", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.1:c.-613G>T" ], "proteinEffect": { "hgvs": "NP_001341835.1:n.-613G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS522744" }, { "@id": "http://reg.genome.network/allele/PA338616", "coordinates": [ { "allele": "T", "end": 482, "referenceAllele": "G", "start": 481 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.6:c.423G>T" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Arg141Ser", "hgvsWellDefined": "NP_000029.2:p.Arg141Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS662295", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.423G>T" }, "RefSeq": { "hgvs": "NM_000038.6:c.423G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Arg141Ser" }, "RefSeq": { "hgvs": "NP_000029.2:p.Arg141Ser" } } } }, { "@id": "http://reg.genome.network/allele/PA338617", "coordinates": [ { "allele": "T", "end": 590, "referenceAllele": "G", "start": 589 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.3:c.423G>T" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Arg141Ser", "hgvsWellDefined": "NP_001120982.1:p.Arg141Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS676902" }, { "@id": "http://reg.genome.network/allele/PA338618", "coordinates": [ { "allele": "T", "end": 673, "referenceAllele": "G", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.3:c.453G>T" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Arg151Ser", "hgvsWellDefined": "NP_001120983.2:p.Arg151Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS676903" }, { "@id": "http://reg.genome.network/allele/PA2827939872", "coordinates": [ { "allele": "T", "end": 826, "referenceAllele": "G", "start": 825 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.2:c.423G>T" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Arg141Ser", "hgvsWellDefined": "NP_001341824.1:p.Arg141Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS690347" }, { "@id": "http://reg.genome.network/allele/PA2827949092", "coordinates": [ { "allele": "T", "end": 482, "referenceAllele": "G", "start": 481 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.2:c.423G>T" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Arg141Ser", "hgvsWellDefined": "NP_001341825.1:p.Arg141Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS690348" }, { "@id": "http://reg.genome.network/allele/PA2827954735", "coordinates": [ { "allele": "T", "end": 673, "referenceAllele": "G", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.2:c.453G>T" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Arg151Ser", "hgvsWellDefined": "NP_001341826.1:p.Arg151Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS690349" }, { "@id": "http://reg.genome.network/allele/PA2827963699", "coordinates": [ { "allele": "T", "end": 437, "referenceAllele": "G", "start": 436 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.2:c.348G>T" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Arg116Ser", "hgvsWellDefined": "NP_001341827.1:p.Arg116Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS690350" }, { "@id": "http://reg.genome.network/allele/PA2827972948", "coordinates": [ { "allele": "T", "end": 482, "referenceAllele": "G", "start": 481 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.2:c.423G>T" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Arg141Ser", "hgvsWellDefined": "NP_001341828.1:p.Arg141Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS690351" }, { "@id": "http://reg.genome.network/allele/PA2827981958", "coordinates": [ { "allele": "T", "end": 329, "referenceAllele": "G", "start": 328 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.2:c.246G>T" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Arg82Ser", "hgvsWellDefined": "NP_001341829.1:p.Arg82Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS690352" }, { "@id": "http://reg.genome.network/allele/PA2827991037", "coordinates": [ { "allele": "T", "end": 329, "referenceAllele": "G", "start": 328 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.2:c.246G>T" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Arg82Ser", "hgvsWellDefined": "NP_001341830.1:p.Arg82Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS690353" }, { "@id": "http://reg.genome.network/allele/PA2827999989", "coordinates": [ { "allele": "T", "end": 673, "referenceAllele": "G", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.2:c.453G>T" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Arg151Ser", "hgvsWellDefined": "NP_001341831.1:p.Arg151Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS690354" }, { "@id": "http://reg.genome.network/allele/PA2828014242", "coordinates": [ { "allele": "T", "end": 482, "referenceAllele": "G", "start": 481 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.2:c.423G>T" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Arg141Ser", "hgvsWellDefined": "NP_001341832.1:p.Arg141Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS690355" }, { "@id": "http://reg.genome.network/allele/PA2828031229", "coordinates": [ { "allele": "T", "end": 437, "referenceAllele": "G", "start": 436 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.2:c.348G>T" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Arg116Ser", "hgvsWellDefined": "NP_001341833.1:p.Arg116Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS690356" }, { "@id": "http://reg.genome.network/allele/PA916042461", "coordinates": [ { "allele": "T", "end": 329, "referenceAllele": "G", "start": 328 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.2:c.246G>T" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Arg82Ser", "hgvsWellDefined": "NP_001341834.1:p.Arg82Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS690357" }, { "coordinates": [ { "allele": "T", "end": 482, "referenceAllele": "G", "start": 481 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.2:c.-613G>T" ], "proteinEffect": { "hgvs": "NP_001341835.1:n.-613G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS690358" } ], "type": "nucleotide" }