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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
7
g.129077782_129077783delinsGA
CA1742646257
7
g.129077783A=
CA1742646264
7
g.129077783A>G
CA833175634
dbSNP
gnomAD v3
gnomAD v4
7
g.129077783A>T
CA1742646265
dbSNP
7
g.129077792dup
CA166237662
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
7
g.129077784_129077792dup
CA1107065847
7
g.129077792del
CA166237664
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
7
g.129077788A=
CA1742646269
7
g.129077788A>G
CA833175639
dbSNP
gnomAD v3
gnomAD v4
7
g.129077788A>T
CA1742646272
dbSNP
7
g.129077789A=
CA1742646273
7
g.129077789A>G
CA166237671
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
7
g.129077789A>T
CA2501844799
7
g.129077791A=
CA1742646274
7
g.129077791A>G
CA166237673
dbSNP
gnomAD v3
gnomAD v4
7
g.129077793G>A
CA833175643
dbSNP
7
g.129077793G=
CA1742646276
7
g.129077794A=
CA1742646280
7
g.129077794A>G
CA166237676
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
7
g.129077796A=
CA1742646287
7
g.129077796A>T
CA577731230
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
7
g.129077797T>A
CA577731232
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
7
g.129077797T=
CA1742646290
7
g.129077798T>C
CA166237679
dbSNP
gnomAD v3
gnomAD v4
7
g.129077798T=
CA1742646292
7
g.129077799A=
CA1742646293
7
g.129077800G>C
CA166237682
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
7
g.129077800G=
CA1742646295
7
g.129077801dup
CA166237680
dbSNP
7
g.129077803A=
CA1742646300
7
g.129077803A>G
CA833175653
dbSNP
7
g.129077807A=
CA1742646304
7
g.129077807A>C
CA166237684
dbSNP
7
g.129077808T>C
CA1742646309
dbSNP
7
g.129077808T=
CA1742646307
7
g.129077810G>A
CA577731236
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
7
g.129077810G=
CA1742646312
7
g.129077812G>A
CA833175658
dbSNP
gnomAD v3
gnomAD v4
7
g.129077812G>C
CA1107065863
dbSNP
gnomAD v3
gnomAD v4
7
g.129077812G=
CA1742646313
7
g.129077813C=
CA1742646314
7
g.129077813C>T
CA1742646315
dbSNP
7
g.129077815G=
CA1742646318
7
g.129077815G>T
CA166237687
dbSNP
7
g.129077817C=
CA1742646321
7
g.129077817C>T
CA166237689
dbSNP
gnomAD v3
gnomAD v4
7
g.129077818G>A
CA577731240
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
7
g.129077818G=
CA1742646325
7
g.129077818G>T
CA1742646328
dbSNP
7
g.129077821A=
CA1742646333
7
g.129077821A>G
CA1742646330
dbSNP
7
g.129077823T>C
CA833175662
dbSNP
gnomAD v3
gnomAD v4
7
g.129077823T=
CA1742646338
7
g.129077827_129077830delinsAAAC
CA1742646341
7
g.129077831_129077833del
CA1742646343
dbSNP
7
g.129077829A=
CA1742646349
7
g.129077829A>G
CA833175669
dbSNP
7
g.129077830C>A
CA577731243
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
7
g.129077830C=
CA1742646352
7
g.129077833C=
CA1742646354
7
g.129077833C>T
CA166237692
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
7
g.129077837A=
CA1742646358
7
g.129077837A>C
CA1107065871
dbSNP
gnomAD v3
gnomAD v4
7
g.129077839C=
CA1742646361
7
g.129077839C>T
CA833175675
dbSNP
7
g.129077840T>C
CA1107065873
dbSNP
gnomAD v3
gnomAD v4
7
g.129077840T=
CA1742646368
7
g.129077842A=
CA1742646375
7
g.129077842A>T
CA1107065874
dbSNP
gnomAD v3
gnomAD v4
7
g.129077843T>C
CA1742646379
dbSNP
7
g.129077843T=
CA1742646378
7
g.129077846A=
CA1742646382
7
g.129077846A>G
CA833175678
dbSNP
7
g.129077847T>A
CA166237694
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
7
g.129077847T=
CA1742646386
7
g.129077851C=
CA1742646388
7
g.129077851C>T
CA166237696
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
7
g.129077852G>A
CA12638848
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
7
g.129077852G>C
CA2580595477
7
g.129077852G=
CA1742646393
7
g.129077852G>T
CA2580595478
7
g.129077875C=
CA1742646396
7
g.129077875C>T
CA1742646398
dbSNP
7
g.129077878C>A
CA577731250
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
7
g.129077878C=
CA1742646405
7
g.129077879T>C
CA2500359208
7
g.129077880T>A
CA1742646409
dbSNP
7
g.129077880T>C
CA166237699
dbSNP
7
g.129077880T=
CA1742646408
7
g.129077882_129077887del
CA2528772031
7
g.129077883A=
CA1742646411
7
g.129077883A>G
CA1742646412
dbSNP
Number of alleles fetched
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