{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA012589", "communityStandardTitle": [ "NM_000038.6(APC):c.6857C>T (p.Ala2286Val)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=132772[alleleid]", "alleleId": 132772, "preferredName": "NM_000038.6(APC):c.6857C>T (p.Ala2286Val)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127315", "RCV": [ "RCV000120028", "RCV000115116", "RCV000122796", "RCV000501432", "RCV002228340", "RCV003477493", "RCV003492450", "RCV003743566" ], "variationId": 127315 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/5-112178148-C-T", "id": "5-112178148-C-T", "variant": "5:112178148 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112178148C>T?assembly=hg19", "id": "chr5:g.112178148C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112842451C>T?assembly=hg38", "id": "chr5:g.112842451C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/200587641", "rs": 200587641 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112178148-C-T?dataset=gnomad_r2_1", "id": "5-112178148-C-T", "variant": "5:112178148 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112842451-C-T?dataset=gnomad_r3", "id": "5-112842451-C-T", "variant": "5:112842451 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112842451-C-T?dataset=gnomad_r4", "id": "5-112842451-C-T", "variant": "5:112842451 C / T" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 112842451, "referenceAllele": "C", "start": 112842450 } ], "hgvs": [ "NC_000005.10:g.112842451C>T", "CM000667.2:g.112842451C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 112178148, "referenceAllele": "C", "start": 112178147 } ], "hgvs": [ "NC_000005.9:g.112178148C>T", "CM000667.1:g.112178148C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 112206047, "referenceAllele": "C", "start": 112206046 } ], "hgvs": [ "NC_000005.8:g.112206047C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 154931, "referenceAllele": "C", "start": 154930 } ], "hgvs": [ "NG_008481.4:g.154931C>T", "LRG_130:g.154931C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001117" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 6967, "referenceAllele": "C", "start": 6966 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000504915.3:c.6911C>T" ], "proteinEffect": { "hgvs": "ENSP00000473355.2:p.Ala2304Val", "hgvsWellDefined": "ENSP00000473355.2:p.Ala2304Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS914183" }, { "coordinates": [ { "allele": "T", "end": 7237, "referenceAllele": "C", "start": 7236 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000505350.2:c.*6863C>T" ], "proteinEffect": { "hgvs": "ENSP00000481752.1:n.*6863C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914185" }, { "coordinates": [ { "allele": "T", "end": 6999, "referenceAllele": "C", "start": 6998 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000507379.6:c.6803C>T" ], "proteinEffect": { "hgvs": "ENSP00000423224.2:p.Ala2268Val", "hgvsWellDefined": "ENSP00000423224.2:p.Ala2268Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS914189" }, { "coordinates": [ { "allele": "T", "end": 7007, "referenceAllele": "C", "start": 7006 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000509732.6:c.6857C>T" ], "proteinEffect": { "hgvs": "ENSP00000426541.2:p.Ala2286Val", "hgvsWellDefined": "ENSP00000426541.2:p.Ala2286Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS914195" }, { "coordinates": [ { "allele": "T", "end": 7208, "referenceAllele": "C", "start": 7207 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000512211.7:c.6857C>T" ], "proteinEffect": { "hgvs": "ENSP00000423828.3:p.Ala2286Val", "hgvsWellDefined": "ENSP00000423828.3:p.Ala2286Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS914202" }, { "coordinates": [ { "allele": "T", "end": 6916, "referenceAllele": "C", "start": 6915 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.9:c.6857C>T" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Ala2286Val", "hgvsWellDefined": "ENSP00000257430.4:p.Ala2286Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS741831", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.6857C>T" }, "RefSeq": { "hgvs": "NM_000038.6:c.6857C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Ala2286Val" }, "RefSeq": { "hgvs": "NP_000029.2:p.Ala2286Val" } } } }, { "coordinates": [ { "allele": "T", "end": 6913, "referenceAllele": "C", "start": 6912 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.8:c.6857C>T" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Ala2286Val", "hgvsWellDefined": "ENSP00000257430.4:p.Ala2286Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS247400" }, { "coordinates": [ { "allele": "T", "end": 7014, "referenceAllele": "C", "start": 7013 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508376.6:c.6857C>T" ], "proteinEffect": { "hgvs": "ENSP00000427089.2:p.Ala2286Val", "hgvsWellDefined": "ENSP00000427089.2:p.Ala2286Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS247198" }, { "coordinates": [ { "allele": "T", "end": 7102, "referenceAllele": "C", "start": 7101 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508624.5:c.*6179C>T" ], "proteinEffect": { "hgvs": "ENSP00000424265.1:n.*6179C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS339602" }, { "coordinates": [ { "allele": "T", "end": 230, "endIntronDirection": "+", "endIntronOffset": 13479, "referenceAllele": "C", "start": 230, "startIntronDirection": "+", "startIntronOffset": 13478 } ], "hgvs": [ "ENST00000520401.1:c.230+13479C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS347453" }, { "@id": "http://reg.genome.network/allele/PA156792", "coordinates": [ { "allele": "T", "end": 6942, "referenceAllele": "C", "start": 6941 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.5:c.6857C>T" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Ala2286Val", "hgvsWellDefined": "NP_000029.2:p.Ala2286Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS006103" }, { "@id": "http://reg.genome.network/allele/PA156793", "coordinates": [ { "allele": "T", "end": 7050, "referenceAllele": "C", "start": 7049 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.2:c.6857C>T" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Ala2286Val", "hgvsWellDefined": "NP_001120982.1:p.Ala2286Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS011634" }, { "@id": "http://reg.genome.network/allele/PA156791", "coordinates": [ { "allele": "T", "end": 7016, "referenceAllele": "C", "start": 7015 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.2:c.6803C>T" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Ala2268Val", "hgvsWellDefined": "NP_001120983.2:p.Ala2268Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS011635" }, { "@id": "http://reg.genome.network/allele/PA2827946816", "coordinates": [ { "allele": "T", "end": 7253, "referenceAllele": "C", "start": 7252 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.1:c.6857C>T" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Ala2286Val", "hgvsWellDefined": "NP_001341824.1:p.Ala2286Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522733" }, { "@id": "http://reg.genome.network/allele/PA916041204", "coordinates": [ { "allele": "T", "end": 6996, "referenceAllele": "C", "start": 6995 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.1:c.6911C>T" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Ala2304Val", "hgvsWellDefined": "NP_001341825.1:p.Ala2304Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522734" }, { "@id": "http://reg.genome.network/allele/PA2827961504", "coordinates": [ { "allele": "T", "end": 7100, "referenceAllele": "C", "start": 7099 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.1:c.6887C>T" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Ala2296Val", "hgvsWellDefined": "NP_001341826.1:p.Ala2296Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522735" }, { "@id": "http://reg.genome.network/allele/PA2827970643", "coordinates": [ { "allele": "T", "end": 6897, "referenceAllele": "C", "start": 6896 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.1:c.6782C>T" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Ala2261Val", "hgvsWellDefined": "NP_001341827.1:p.Ala2261Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522736" }, { "@id": "http://reg.genome.network/allele/PA2827979816", "coordinates": [ { "allele": "T", "end": 6858, "referenceAllele": "C", "start": 6857 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.1:c.6773C>T" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Ala2258Val", "hgvsWellDefined": "NP_001341828.1:p.Ala2258Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522737" }, { "@id": "http://reg.genome.network/allele/PA2827988893", "coordinates": [ { "allele": "T", "end": 6843, "referenceAllele": "C", "start": 6842 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.1:c.6734C>T" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Ala2245Val", "hgvsWellDefined": "NP_001341829.1:p.Ala2245Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522738" }, { "@id": "http://reg.genome.network/allele/PA2827997958", "coordinates": [ { "allele": "T", "end": 6789, "referenceAllele": "C", "start": 6788 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.1:c.6680C>T" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Ala2227Val", "hgvsWellDefined": "NP_001341830.1:p.Ala2227Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522739" }, { "@id": "http://reg.genome.network/allele/PA2828003783", "coordinates": [ { "allele": "T", "end": 6797, "referenceAllele": "C", "start": 6796 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.1:c.6584C>T" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Ala2195Val", "hgvsWellDefined": "NP_001341831.1:p.Ala2195Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522740" }, { "@id": "http://reg.genome.network/allele/PA2828027258", "coordinates": [ { "allele": "T", "end": 6639, "referenceAllele": "C", "start": 6638 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.1:c.6554C>T" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Ala2185Val", "hgvsWellDefined": "NP_001341832.1:p.Ala2185Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522741" }, { "@id": "http://reg.genome.network/allele/PA2828046431", "coordinates": [ { "allele": "T", "end": 6594, "referenceAllele": "C", "start": 6593 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.1:c.6479C>T" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Ala2160Val", "hgvsWellDefined": "NP_001341833.1:p.Ala2160Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522742" }, { "@id": "http://reg.genome.network/allele/PA2828010887", "coordinates": [ { "allele": "T", "end": 6486, "referenceAllele": "C", "start": 6485 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.1:c.6377C>T" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Ala2126Val", "hgvsWellDefined": "NP_001341834.1:p.Ala2126Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522743" }, { "@id": "http://reg.genome.network/allele/PA2828026998", "coordinates": [ { "allele": "T", "end": 7128, "referenceAllele": "C", "start": 7127 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.1:c.6008C>T" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Ala2003Val", "hgvsWellDefined": "NP_001341835.1:p.Ala2003Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522744" }, { "@id": "http://reg.genome.network/allele/PA156792", "coordinates": [ { "allele": "T", "end": 6916, "referenceAllele": "C", "start": 6915 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.6:c.6857C>T" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Ala2286Val", "hgvsWellDefined": "NP_000029.2:p.Ala2286Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS662295", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.6857C>T" }, "RefSeq": { "hgvs": "NM_000038.6:c.6857C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Ala2286Val" }, "RefSeq": { "hgvs": "NP_000029.2:p.Ala2286Val" } } } }, { "@id": "http://reg.genome.network/allele/PA156793", "coordinates": [ { "allele": "T", "end": 7024, "referenceAllele": "C", "start": 7023 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.3:c.6857C>T" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Ala2286Val", "hgvsWellDefined": "NP_001120982.1:p.Ala2286Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS676902" }, { "@id": "http://reg.genome.network/allele/PA156791", "coordinates": [ { "allele": "T", "end": 7023, "referenceAllele": "C", "start": 7022 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.3:c.6803C>T" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Ala2268Val", "hgvsWellDefined": "NP_001120983.2:p.Ala2268Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS676903" }, { "@id": "http://reg.genome.network/allele/PA2827946816", "coordinates": [ { "allele": "T", "end": 7260, "referenceAllele": "C", "start": 7259 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.2:c.6857C>T" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Ala2286Val", "hgvsWellDefined": "NP_001341824.1:p.Ala2286Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690347" }, { "@id": "http://reg.genome.network/allele/PA916041204", "coordinates": [ { "allele": "T", "end": 6970, "referenceAllele": "C", "start": 6969 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.2:c.6911C>T" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Ala2304Val", "hgvsWellDefined": "NP_001341825.1:p.Ala2304Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690348" }, { "@id": "http://reg.genome.network/allele/PA2827961504", "coordinates": [ { "allele": "T", "end": 7107, "referenceAllele": "C", "start": 7106 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.2:c.6887C>T" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Ala2296Val", "hgvsWellDefined": "NP_001341826.1:p.Ala2296Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690349" }, { "@id": "http://reg.genome.network/allele/PA2827970643", "coordinates": [ { "allele": "T", "end": 6871, "referenceAllele": "C", "start": 6870 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.2:c.6782C>T" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Ala2261Val", "hgvsWellDefined": "NP_001341827.1:p.Ala2261Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690350" }, { "@id": "http://reg.genome.network/allele/PA2827979816", "coordinates": [ { "allele": "T", "end": 6832, "referenceAllele": "C", "start": 6831 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.2:c.6773C>T" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Ala2258Val", "hgvsWellDefined": "NP_001341828.1:p.Ala2258Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690351" }, { "@id": "http://reg.genome.network/allele/PA2827988893", "coordinates": [ { "allele": "T", "end": 6817, "referenceAllele": "C", "start": 6816 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.2:c.6734C>T" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Ala2245Val", "hgvsWellDefined": "NP_001341829.1:p.Ala2245Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690352" }, { "@id": "http://reg.genome.network/allele/PA2827997958", "coordinates": [ { "allele": "T", "end": 6763, "referenceAllele": "C", "start": 6762 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.2:c.6680C>T" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Ala2227Val", "hgvsWellDefined": "NP_001341830.1:p.Ala2227Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690353" }, { "@id": "http://reg.genome.network/allele/PA2828003783", "coordinates": [ { "allele": "T", "end": 6804, "referenceAllele": "C", "start": 6803 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.2:c.6584C>T" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Ala2195Val", "hgvsWellDefined": "NP_001341831.1:p.Ala2195Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690354" }, { "@id": "http://reg.genome.network/allele/PA2828027258", "coordinates": [ { "allele": "T", "end": 6613, "referenceAllele": "C", "start": 6612 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.2:c.6554C>T" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Ala2185Val", "hgvsWellDefined": "NP_001341832.1:p.Ala2185Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690355" }, { "@id": "http://reg.genome.network/allele/PA2828046431", "coordinates": [ { "allele": "T", "end": 6568, "referenceAllele": "C", "start": 6567 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.2:c.6479C>T" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Ala2160Val", "hgvsWellDefined": "NP_001341833.1:p.Ala2160Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690356" }, { "@id": "http://reg.genome.network/allele/PA2828010887", "coordinates": [ { "allele": "T", "end": 6460, "referenceAllele": "C", "start": 6459 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.2:c.6377C>T" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Ala2126Val", "hgvsWellDefined": "NP_001341834.1:p.Ala2126Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690357" }, { "@id": "http://reg.genome.network/allele/PA2828026998", "coordinates": [ { "allele": "T", "end": 7102, "referenceAllele": "C", "start": 7101 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.2:c.6008C>T" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Ala2003Val", "hgvsWellDefined": "NP_001341835.1:p.Ala2003Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690358" } ], "type": "nucleotide" }