{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA004108", "communityStandardTitle": [ "NM_000038.6(APC):c.1241G>A (p.Arg414His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=180176[alleleid]", "alleleId": 180176, "preferredName": "NM_000038.6(APC):c.1241G>A (p.Arg414His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/181785", "RCV": [ "RCV000159530", "RCV000227001", "RCV000779739", "RCV000568544", "RCV002484993", "RCV003315945", "RCV003998402" ], "variationId": 181785 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/5-112154970-G-A", "id": "5-112154970-G-A", "variant": "5:112154970 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112154970G>A?assembly=hg19", "id": "chr5:g.112154970G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112819273G>A?assembly=hg38", "id": "chr5:g.112819273G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/730881233", "rs": 730881233 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112154970-G-A?dataset=gnomad_r2_1", "id": "5-112154970-G-A", "variant": "5:112154970 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112819273-G-A?dataset=gnomad_r4", "id": "5-112819273-G-A", "variant": "5:112819273 G / A" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 112819273, "referenceAllele": "G", "start": 112819272 } ], "hgvs": [ "NC_000005.10:g.112819273G>A", "CM000667.2:g.112819273G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 112154970, "referenceAllele": "G", "start": 112154969 } ], "hgvs": [ "NC_000005.9:g.112154970G>A", "CM000667.1:g.112154970G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 112182869, "referenceAllele": "G", "start": 112182868 } ], "hgvs": [ "NC_000005.8:g.112182869G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 131753, "referenceAllele": "G", "start": 131752 } ], "hgvs": [ "NG_008481.4:g.131753G>A", "LRG_130:g.131753G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001117" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1241, "referenceAllele": "G", "start": 1240 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000502371.3:c.1241G>A" ], "proteinEffect": { "hgvs": "ENSP00000484935.2:p.Arg414His", "hgvsWellDefined": "ENSP00000484935.2:p.Arg414His" }, "referenceSequence": "http://reg.genome.network/refseq/RS914176" }, { "coordinates": [ { "allele": "A", "end": 1297, "referenceAllele": "G", "start": 1296 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000504915.3:c.1241G>A" ], "proteinEffect": { "hgvs": "ENSP00000473355.2:p.Arg414His", "hgvsWellDefined": "ENSP00000473355.2:p.Arg414His" }, "referenceSequence": "http://reg.genome.network/refseq/RS914183" }, { "coordinates": [ { "allele": "A", "end": 1297, "referenceAllele": "G", "start": 1296 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000505084.2:n.1297G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS914184" }, { "coordinates": [ { "allele": "A", "end": 1621, "referenceAllele": "G", "start": 1620 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000505350.2:c.*1247G>A" ], "proteinEffect": { "hgvs": "ENSP00000481752.1:n.*1247G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914185" }, { "coordinates": [ { "allele": "A", "end": 1383, "referenceAllele": "G", "start": 1382 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000507379.6:c.1187G>A" ], "proteinEffect": { "hgvs": "ENSP00000423224.2:p.Arg396His", "hgvsWellDefined": "ENSP00000423224.2:p.Arg396His" }, "referenceSequence": "http://reg.genome.network/refseq/RS914189" }, { "coordinates": [ { "allele": "A", "end": 1391, "referenceAllele": "G", "start": 1390 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000509732.6:c.1241G>A" ], "proteinEffect": { "hgvs": "ENSP00000426541.2:p.Arg414His", "hgvsWellDefined": "ENSP00000426541.2:p.Arg414His" }, "referenceSequence": "http://reg.genome.network/refseq/RS914195" }, { "coordinates": [ { "allele": "A", "end": 1592, "referenceAllele": "G", "start": 1591 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000512211.7:c.1241G>A" ], "proteinEffect": { "hgvs": "ENSP00000423828.3:p.Arg414His", "hgvsWellDefined": "ENSP00000423828.3:p.Arg414His" }, "referenceSequence": "http://reg.genome.network/refseq/RS914202" }, { "coordinates": [ { "allele": "A", "end": 1300, "referenceAllele": "G", "start": 1299 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.9:c.1241G>A" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Arg414His", "hgvsWellDefined": "ENSP00000257430.4:p.Arg414His" }, "referenceSequence": "http://reg.genome.network/refseq/RS741831", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.1241G>A" }, "RefSeq": { "hgvs": "NM_000038.6:c.1241G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Arg414His" }, "RefSeq": { "hgvs": "NP_000029.2:p.Arg414His" } } } }, { "coordinates": [ { "allele": "A", "end": 1297, "referenceAllele": "G", "start": 1296 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.8:c.1241G>A" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Arg414His", "hgvsWellDefined": "ENSP00000257430.4:p.Arg414His" }, "referenceSequence": "http://reg.genome.network/refseq/RS247400" }, { "coordinates": [ { "allele": "A", "end": 1383, "referenceAllele": "G", "start": 1382 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000507379.5:c.1187G>A" ], "proteinEffect": { "hgvs": "ENSP00000423224.1:p.Arg396His", "hgvsWellDefined": "ENSP00000423224.1:p.Arg396His" }, "referenceSequence": "http://reg.genome.network/refseq/RS247315" }, { "coordinates": [ { "allele": "A", "end": 1398, "referenceAllele": "G", "start": 1397 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508376.6:c.1241G>A" ], "proteinEffect": { "hgvs": "ENSP00000427089.2:p.Arg414His", "hgvsWellDefined": "ENSP00000427089.2:p.Arg414His" }, "referenceSequence": "http://reg.genome.network/refseq/RS247198" }, { "coordinates": [ { "allele": "A", "end": 1486, "referenceAllele": "G", "start": 1485 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508624.5:c.*563G>A" ], "proteinEffect": { "hgvs": "ENSP00000424265.1:n.*563G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS339602" }, { "coordinates": [ { "allele": "A", "end": 1388, "referenceAllele": "G", "start": 1387 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000512211.6:c.1241G>A" ], "proteinEffect": { "hgvs": "ENSP00000423828.2:p.Arg414His", "hgvsWellDefined": "ENSP00000423828.2:p.Arg414His" }, "referenceSequence": "http://reg.genome.network/refseq/RS247286" }, { "@id": "http://reg.genome.network/allele/PA297734", "coordinates": [ { "allele": "A", "end": 1326, "referenceAllele": "G", "start": 1325 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.5:c.1241G>A" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Arg414His", "hgvsWellDefined": "NP_000029.2:p.Arg414His" }, "referenceSequence": "http://reg.genome.network/refseq/RS006103" }, { "@id": "http://reg.genome.network/allele/PA297735", "coordinates": [ { "allele": "A", "end": 1434, "referenceAllele": "G", "start": 1433 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.2:c.1241G>A" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Arg414His", "hgvsWellDefined": "NP_001120982.1:p.Arg414His" }, "referenceSequence": "http://reg.genome.network/refseq/RS011634" }, { "@id": "http://reg.genome.network/allele/PA297733", "coordinates": [ { "allele": "A", "end": 1400, "referenceAllele": "G", "start": 1399 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.2:c.1187G>A" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Arg396His", "hgvsWellDefined": "NP_001120983.2:p.Arg396His" }, "referenceSequence": "http://reg.genome.network/refseq/RS011635" }, { "@id": "http://reg.genome.network/allele/PA2827940736", "coordinates": [ { "allele": "A", "end": 1637, "referenceAllele": "G", "start": 1636 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.1:c.1241G>A" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Arg414His", "hgvsWellDefined": "NP_001341824.1:p.Arg414His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522733" }, { "@id": "http://reg.genome.network/allele/PA2827949874", "coordinates": [ { "allele": "A", "end": 1326, "referenceAllele": "G", "start": 1325 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.1:c.1241G>A" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Arg414His", "hgvsWellDefined": "NP_001341825.1:p.Arg414His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522734" }, { "@id": "http://reg.genome.network/allele/PA916041903", "coordinates": [ { "allele": "A", "end": 1484, "referenceAllele": "G", "start": 1483 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.1:c.1271G>A" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Arg424His", "hgvsWellDefined": "NP_001341826.1:p.Arg424His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522735" }, { "@id": "http://reg.genome.network/allele/PA2827964568", "coordinates": [ { "allele": "A", "end": 1281, "referenceAllele": "G", "start": 1280 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.1:c.1166G>A" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Arg389His", "hgvsWellDefined": "NP_001341827.1:p.Arg389His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522736" }, { "@id": "http://reg.genome.network/allele/PA2827973726", "coordinates": [ { "allele": "A", "end": 1242, "referenceAllele": "G", "start": 1241 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.1:c.1157G>A" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Arg386His", "hgvsWellDefined": "NP_001341828.1:p.Arg386His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522737" }, { "@id": "http://reg.genome.network/allele/PA2827982822", "coordinates": [ { "allele": "A", "end": 1173, "referenceAllele": "G", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.1:c.1064G>A" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Arg355His", "hgvsWellDefined": "NP_001341829.1:p.Arg355His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522738" }, { "@id": "http://reg.genome.network/allele/PA2827991899", "coordinates": [ { "allele": "A", "end": 1173, "referenceAllele": "G", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.1:c.1064G>A" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Arg355His", "hgvsWellDefined": "NP_001341830.1:p.Arg355His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522739" }, { "@id": "http://reg.genome.network/allele/PA2828000214", "coordinates": [ { "allele": "A", "end": 1181, "referenceAllele": "G", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.1:c.968G>A" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Arg323His", "hgvsWellDefined": "NP_001341831.1:p.Arg323His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522740" }, { "@id": "http://reg.genome.network/allele/PA2828015238", "coordinates": [ { "allele": "A", "end": 1023, "referenceAllele": "G", "start": 1022 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.1:c.938G>A" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Arg313His", "hgvsWellDefined": "NP_001341832.1:p.Arg313His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522741" }, { "@id": "http://reg.genome.network/allele/PA2828032247", "coordinates": [ { "allele": "A", "end": 978, "referenceAllele": "G", "start": 977 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.1:c.863G>A" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Arg288His", "hgvsWellDefined": "NP_001341833.1:p.Arg288His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522742" }, { "@id": "http://reg.genome.network/allele/PA2828052154", "coordinates": [ { "allele": "A", "end": 870, "referenceAllele": "G", "start": 869 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.1:c.761G>A" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Arg254His", "hgvsWellDefined": "NP_001341834.1:p.Arg254His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522743" }, { "@id": "http://reg.genome.network/allele/PA2828015099", "coordinates": [ { "allele": "A", "end": 1512, "referenceAllele": "G", "start": 1511 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.1:c.392G>A" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Arg131His", "hgvsWellDefined": "NP_001341835.1:p.Arg131His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522744" }, { "@id": "http://reg.genome.network/allele/PA297734", "coordinates": [ { "allele": "A", "end": 1300, "referenceAllele": "G", "start": 1299 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.6:c.1241G>A" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Arg414His", "hgvsWellDefined": "NP_000029.2:p.Arg414His" }, "referenceSequence": "http://reg.genome.network/refseq/RS662295", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.1241G>A" }, "RefSeq": { "hgvs": "NM_000038.6:c.1241G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Arg414His" }, "RefSeq": { "hgvs": "NP_000029.2:p.Arg414His" } } } }, { "@id": "http://reg.genome.network/allele/PA297735", "coordinates": [ { "allele": "A", "end": 1408, "referenceAllele": "G", "start": 1407 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.3:c.1241G>A" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Arg414His", "hgvsWellDefined": "NP_001120982.1:p.Arg414His" }, "referenceSequence": "http://reg.genome.network/refseq/RS676902" }, { "@id": "http://reg.genome.network/allele/PA297733", "coordinates": [ { "allele": "A", "end": 1407, "referenceAllele": "G", "start": 1406 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.3:c.1187G>A" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Arg396His", "hgvsWellDefined": "NP_001120983.2:p.Arg396His" }, "referenceSequence": "http://reg.genome.network/refseq/RS676903" }, { "@id": "http://reg.genome.network/allele/PA2827940736", "coordinates": [ { "allele": "A", "end": 1644, "referenceAllele": "G", "start": 1643 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.2:c.1241G>A" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Arg414His", "hgvsWellDefined": "NP_001341824.1:p.Arg414His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690347" }, { "@id": "http://reg.genome.network/allele/PA2827949874", "coordinates": [ { "allele": "A", "end": 1300, "referenceAllele": "G", "start": 1299 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.2:c.1241G>A" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Arg414His", "hgvsWellDefined": "NP_001341825.1:p.Arg414His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690348" }, { "@id": "http://reg.genome.network/allele/PA916041903", "coordinates": [ { "allele": "A", "end": 1491, "referenceAllele": "G", "start": 1490 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.2:c.1271G>A" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Arg424His", "hgvsWellDefined": "NP_001341826.1:p.Arg424His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690349" }, { "@id": "http://reg.genome.network/allele/PA2827964568", "coordinates": [ { "allele": "A", "end": 1255, "referenceAllele": "G", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.2:c.1166G>A" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Arg389His", "hgvsWellDefined": "NP_001341827.1:p.Arg389His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690350" }, { "@id": "http://reg.genome.network/allele/PA2827973726", "coordinates": [ { "allele": "A", "end": 1216, "referenceAllele": "G", "start": 1215 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.2:c.1157G>A" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Arg386His", "hgvsWellDefined": "NP_001341828.1:p.Arg386His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690351" }, { "@id": "http://reg.genome.network/allele/PA2827982822", "coordinates": [ { "allele": "A", "end": 1147, "referenceAllele": "G", "start": 1146 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.2:c.1064G>A" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Arg355His", "hgvsWellDefined": "NP_001341829.1:p.Arg355His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690352" }, { "@id": "http://reg.genome.network/allele/PA2827991899", "coordinates": [ { "allele": "A", "end": 1147, "referenceAllele": "G", "start": 1146 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.2:c.1064G>A" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Arg355His", "hgvsWellDefined": "NP_001341830.1:p.Arg355His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690353" }, { "@id": "http://reg.genome.network/allele/PA2828000214", "coordinates": [ { "allele": "A", "end": 1188, "referenceAllele": "G", "start": 1187 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.2:c.968G>A" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Arg323His", "hgvsWellDefined": "NP_001341831.1:p.Arg323His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690354" }, { "@id": "http://reg.genome.network/allele/PA2828015238", "coordinates": [ { "allele": "A", "end": 997, "referenceAllele": "G", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.2:c.938G>A" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Arg313His", "hgvsWellDefined": "NP_001341832.1:p.Arg313His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690355" }, { "@id": "http://reg.genome.network/allele/PA2828032247", "coordinates": [ { "allele": "A", "end": 952, "referenceAllele": "G", "start": 951 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.2:c.863G>A" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Arg288His", "hgvsWellDefined": "NP_001341833.1:p.Arg288His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690356" }, { "@id": "http://reg.genome.network/allele/PA2828052154", "coordinates": [ { "allele": "A", "end": 844, "referenceAllele": "G", "start": 843 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.2:c.761G>A" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Arg254His", "hgvsWellDefined": "NP_001341834.1:p.Arg254His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690357" }, { "@id": "http://reg.genome.network/allele/PA2828015099", "coordinates": [ { "allele": "A", "end": 1486, "referenceAllele": "G", "start": 1485 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.2:c.392G>A" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Arg131His", "hgvsWellDefined": "NP_001341835.1:p.Arg131His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690358" } ], "type": "nucleotide" }