{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA012891", "communityStandardTitle": [ "NM_000038.6(APC):c.7174C>A (p.Pro2392Thr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=180221[alleleid]", "alleleId": 180221, "preferredName": "NM_000038.6(APC):c.7174C>A (p.Pro2392Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/181816", "RCV": [ "RCV000159568", "RCV000219951", "RCV000409928", "RCV001192797", "RCV003315949", "RCV003998420" ], "variationId": 181816 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/5-112178465-C-A", "id": "5-112178465-C-A", "variant": "5:112178465 C / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112178465C>A?assembly=hg19", "id": "chr5:g.112178465C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112842768C>A?assembly=hg38", "id": "chr5:g.112842768C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/730881257", "rs": 730881257 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112178465-C-A?dataset=gnomad_r2_1", "id": "5-112178465-C-A", "variant": "5:112178465 C / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112842768-C-A?dataset=gnomad_r3", "id": "5-112842768-C-A", "variant": "5:112842768 C / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112842768-C-A?dataset=gnomad_r4", "id": "5-112842768-C-A", "variant": "5:112842768 C / A" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 112842768, "referenceAllele": "C", "start": 112842767 } ], "hgvs": [ "NC_000005.10:g.112842768C>A", "CM000667.2:g.112842768C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 112178465, "referenceAllele": "C", "start": 112178464 } ], "hgvs": [ "NC_000005.9:g.112178465C>A", "CM000667.1:g.112178465C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 112206364, "referenceAllele": "C", "start": 112206363 } ], "hgvs": [ "NC_000005.8:g.112206364C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 155248, "referenceAllele": "C", "start": 155247 } ], "hgvs": [ "NG_008481.4:g.155248C>A", "LRG_130:g.155248C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001117" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 7284, "referenceAllele": "C", "start": 7283 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000504915.3:c.7228C>A" ], "proteinEffect": { "hgvs": "ENSP00000473355.2:p.Pro2410Thr", "hgvsWellDefined": "ENSP00000473355.2:p.Pro2410Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914183" }, { "coordinates": [ { "allele": "A", "end": 7554, "referenceAllele": "C", "start": 7553 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000505350.2:c.*7180C>A" ], "proteinEffect": { "hgvs": "ENSP00000481752.1:n.*7180C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914185" }, { "coordinates": [ { "allele": "A", "end": 7316, "referenceAllele": "C", "start": 7315 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000507379.6:c.7120C>A" ], "proteinEffect": { "hgvs": "ENSP00000423224.2:p.Pro2374Thr", "hgvsWellDefined": "ENSP00000423224.2:p.Pro2374Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914189" }, { "coordinates": [ { "allele": "A", "end": 7324, "referenceAllele": "C", "start": 7323 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000509732.6:c.7174C>A" ], "proteinEffect": { "hgvs": "ENSP00000426541.2:p.Pro2392Thr", "hgvsWellDefined": "ENSP00000426541.2:p.Pro2392Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914195" }, { "coordinates": [ { "allele": "A", "end": 7525, "referenceAllele": "C", "start": 7524 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000512211.7:c.7174C>A" ], "proteinEffect": { "hgvs": "ENSP00000423828.3:p.Pro2392Thr", "hgvsWellDefined": "ENSP00000423828.3:p.Pro2392Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914202" }, { "coordinates": [ { "allele": "A", "end": 7233, "referenceAllele": "C", "start": 7232 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.9:c.7174C>A" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Pro2392Thr", "hgvsWellDefined": "ENSP00000257430.4:p.Pro2392Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS741831", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.7174C>A" }, "RefSeq": { "hgvs": "NM_000038.6:c.7174C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Pro2392Thr" }, "RefSeq": { "hgvs": "NP_000029.2:p.Pro2392Thr" } } } }, { "coordinates": [ { "allele": "A", "end": 7230, "referenceAllele": "C", "start": 7229 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.8:c.7174C>A" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Pro2392Thr", "hgvsWellDefined": "ENSP00000257430.4:p.Pro2392Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247400" }, { "coordinates": [ { "allele": "A", "end": 7331, "referenceAllele": "C", "start": 7330 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508376.6:c.7174C>A" ], "proteinEffect": { "hgvs": "ENSP00000427089.2:p.Pro2392Thr", "hgvsWellDefined": "ENSP00000427089.2:p.Pro2392Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247198" }, { "coordinates": [ { "allele": "A", "end": 230, "endIntronDirection": "+", "endIntronOffset": 13796, "referenceAllele": "C", "start": 230, "startIntronDirection": "+", "startIntronOffset": 13795 } ], "hgvs": [ "ENST00000520401.1:c.230+13796C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS347453" }, { "@id": "http://reg.genome.network/allele/PA297891", "coordinates": [ { "allele": "A", "end": 7259, "referenceAllele": "C", "start": 7258 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.5:c.7174C>A" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Pro2392Thr", "hgvsWellDefined": "NP_000029.2:p.Pro2392Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS006103" }, { "@id": "http://reg.genome.network/allele/PA297892", "coordinates": [ { "allele": "A", "end": 7367, "referenceAllele": "C", "start": 7366 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.2:c.7174C>A" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Pro2392Thr", "hgvsWellDefined": "NP_001120982.1:p.Pro2392Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS011634" }, { "@id": "http://reg.genome.network/allele/PA297890", "coordinates": [ { "allele": "A", "end": 7333, "referenceAllele": "C", "start": 7332 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.2:c.7120C>A" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Pro2374Thr", "hgvsWellDefined": "NP_001120983.2:p.Pro2374Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS011635" }, { "@id": "http://reg.genome.network/allele/PA2827947174", "coordinates": [ { "allele": "A", "end": 7570, "referenceAllele": "C", "start": 7569 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.1:c.7174C>A" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Pro2392Thr", "hgvsWellDefined": "NP_001341824.1:p.Pro2392Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522733" }, { "@id": "http://reg.genome.network/allele/PA916041340", "coordinates": [ { "allele": "A", "end": 7313, "referenceAllele": "C", "start": 7312 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.1:c.7228C>A" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Pro2410Thr", "hgvsWellDefined": "NP_001341825.1:p.Pro2410Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522734" }, { "@id": "http://reg.genome.network/allele/PA2827961863", "coordinates": [ { "allele": "A", "end": 7417, "referenceAllele": "C", "start": 7416 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.1:c.7204C>A" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Pro2402Thr", "hgvsWellDefined": "NP_001341826.1:p.Pro2402Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522735" }, { "@id": "http://reg.genome.network/allele/PA2827971000", "coordinates": [ { "allele": "A", "end": 7214, "referenceAllele": "C", "start": 7213 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.1:c.7099C>A" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Pro2367Thr", "hgvsWellDefined": "NP_001341827.1:p.Pro2367Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522736" }, { "@id": "http://reg.genome.network/allele/PA2827980173", "coordinates": [ { "allele": "A", "end": 7175, "referenceAllele": "C", "start": 7174 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.1:c.7090C>A" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Pro2364Thr", "hgvsWellDefined": "NP_001341828.1:p.Pro2364Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522737" }, { "@id": "http://reg.genome.network/allele/PA2827989253", "coordinates": [ { "allele": "A", "end": 7160, "referenceAllele": "C", "start": 7159 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.1:c.7051C>A" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Pro2351Thr", "hgvsWellDefined": "NP_001341829.1:p.Pro2351Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522738" }, { "@id": "http://reg.genome.network/allele/PA2827998315", "coordinates": [ { "allele": "A", "end": 7106, "referenceAllele": "C", "start": 7105 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.1:c.6997C>A" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Pro2333Thr", "hgvsWellDefined": "NP_001341830.1:p.Pro2333Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522739" }, { "@id": "http://reg.genome.network/allele/PA2828011760", "coordinates": [ { "allele": "A", "end": 7114, "referenceAllele": "C", "start": 7113 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.1:c.6901C>A" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Pro2301Thr", "hgvsWellDefined": "NP_001341831.1:p.Pro2301Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522740" }, { "@id": "http://reg.genome.network/allele/PA2828027907", "coordinates": [ { "allele": "A", "end": 6956, "referenceAllele": "C", "start": 6955 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.1:c.6871C>A" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Pro2291Thr", "hgvsWellDefined": "NP_001341832.1:p.Pro2291Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522741" }, { "@id": "http://reg.genome.network/allele/PA2828047118", "coordinates": [ { "allele": "A", "end": 6911, "referenceAllele": "C", "start": 6910 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.1:c.6796C>A" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Pro2266Thr", "hgvsWellDefined": "NP_001341833.1:p.Pro2266Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522742" }, { "@id": "http://reg.genome.network/allele/PA2828011608", "coordinates": [ { "allele": "A", "end": 6803, "referenceAllele": "C", "start": 6802 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.1:c.6694C>A" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Pro2232Thr", "hgvsWellDefined": "NP_001341834.1:p.Pro2232Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522743" }, { "@id": "http://reg.genome.network/allele/PA2828027746", "coordinates": [ { "allele": "A", "end": 7445, "referenceAllele": "C", "start": 7444 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.1:c.6325C>A" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Pro2109Thr", "hgvsWellDefined": "NP_001341835.1:p.Pro2109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522744" }, { "@id": "http://reg.genome.network/allele/PA297891", "coordinates": [ { "allele": "A", "end": 7233, "referenceAllele": "C", "start": 7232 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.6:c.7174C>A" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Pro2392Thr", "hgvsWellDefined": "NP_000029.2:p.Pro2392Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS662295", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.7174C>A" }, "RefSeq": { "hgvs": "NM_000038.6:c.7174C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Pro2392Thr" }, "RefSeq": { "hgvs": "NP_000029.2:p.Pro2392Thr" } } } }, { "@id": "http://reg.genome.network/allele/PA297892", "coordinates": [ { "allele": "A", "end": 7341, "referenceAllele": "C", "start": 7340 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.3:c.7174C>A" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Pro2392Thr", "hgvsWellDefined": "NP_001120982.1:p.Pro2392Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS676902" }, { "@id": "http://reg.genome.network/allele/PA297890", "coordinates": [ { "allele": "A", "end": 7340, "referenceAllele": "C", "start": 7339 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.3:c.7120C>A" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Pro2374Thr", "hgvsWellDefined": "NP_001120983.2:p.Pro2374Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS676903" }, { "@id": "http://reg.genome.network/allele/PA2827947174", "coordinates": [ { "allele": "A", "end": 7577, "referenceAllele": "C", "start": 7576 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.2:c.7174C>A" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Pro2392Thr", "hgvsWellDefined": "NP_001341824.1:p.Pro2392Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690347" }, { "@id": "http://reg.genome.network/allele/PA916041340", "coordinates": [ { "allele": "A", "end": 7287, "referenceAllele": "C", "start": 7286 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.2:c.7228C>A" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Pro2410Thr", "hgvsWellDefined": "NP_001341825.1:p.Pro2410Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690348" }, { "@id": "http://reg.genome.network/allele/PA2827961863", "coordinates": [ { "allele": "A", "end": 7424, "referenceAllele": "C", "start": 7423 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.2:c.7204C>A" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Pro2402Thr", "hgvsWellDefined": "NP_001341826.1:p.Pro2402Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690349" }, { "@id": "http://reg.genome.network/allele/PA2827971000", "coordinates": [ { "allele": "A", "end": 7188, "referenceAllele": "C", "start": 7187 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.2:c.7099C>A" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Pro2367Thr", "hgvsWellDefined": "NP_001341827.1:p.Pro2367Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690350" }, { "@id": "http://reg.genome.network/allele/PA2827980173", "coordinates": [ { "allele": "A", "end": 7149, "referenceAllele": "C", "start": 7148 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.2:c.7090C>A" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Pro2364Thr", "hgvsWellDefined": "NP_001341828.1:p.Pro2364Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690351" }, { "@id": "http://reg.genome.network/allele/PA2827989253", "coordinates": [ { "allele": "A", "end": 7134, "referenceAllele": "C", "start": 7133 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.2:c.7051C>A" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Pro2351Thr", "hgvsWellDefined": "NP_001341829.1:p.Pro2351Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690352" }, { "@id": "http://reg.genome.network/allele/PA2827998315", "coordinates": [ { "allele": "A", "end": 7080, "referenceAllele": "C", "start": 7079 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.2:c.6997C>A" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Pro2333Thr", "hgvsWellDefined": "NP_001341830.1:p.Pro2333Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690353" }, { "@id": "http://reg.genome.network/allele/PA2828011760", "coordinates": [ { "allele": "A", "end": 7121, "referenceAllele": "C", "start": 7120 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.2:c.6901C>A" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Pro2301Thr", "hgvsWellDefined": "NP_001341831.1:p.Pro2301Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690354" }, { "@id": "http://reg.genome.network/allele/PA2828027907", "coordinates": [ { "allele": "A", "end": 6930, "referenceAllele": "C", "start": 6929 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.2:c.6871C>A" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Pro2291Thr", "hgvsWellDefined": "NP_001341832.1:p.Pro2291Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690355" }, { "@id": "http://reg.genome.network/allele/PA2828047118", "coordinates": [ { "allele": "A", "end": 6885, "referenceAllele": "C", "start": 6884 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.2:c.6796C>A" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Pro2266Thr", "hgvsWellDefined": "NP_001341833.1:p.Pro2266Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690356" }, { "@id": "http://reg.genome.network/allele/PA2828011608", "coordinates": [ { "allele": "A", "end": 6777, "referenceAllele": "C", "start": 6776 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.2:c.6694C>A" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Pro2232Thr", "hgvsWellDefined": "NP_001341834.1:p.Pro2232Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690357" }, { "@id": "http://reg.genome.network/allele/PA2828027746", "coordinates": [ { "allele": "A", "end": 7419, "referenceAllele": "C", "start": 7418 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.2:c.6325C>A" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Pro2109Thr", "hgvsWellDefined": "NP_001341835.1:p.Pro2109Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690358" } ], "type": "nucleotide" }