×
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
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
7
g.1245467A=
CA1682466454
7
g.1245467A>G
CA152433720
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
7
g.1245467A>T
CA152433723
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
7
g.1245473C=
CA1682466455
7
g.1245473C>T
CA832715124
dbSNP
7
g.1245478G>A
CA1682466457
dbSNP
7
g.1245478G=
CA1682466456
7
g.1245479C=
CA1682466458
7
g.1245479C>T
CA1682466459
dbSNP
7
g.1245480T>C
CA2774122026
7
g.1245481T>A
CA572087559
dbSNP
gnomAD v2
7
g.1245481T>C
CA1682466461
dbSNP
7
g.1245481T=
CA1682466460
7
g.1245490A=
CA1682466462
7
g.1245490A>T
CA152433736
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
7
g.1245491G>A
CA2713795032
dbSNP
7
g.1245493C=
CA1682466463
7
g.1245493C>G
CA1682466464
dbSNP
7
g.1245493C>T
CA832715128
dbSNP
7
g.1245499A=
CA1682466465
7
g.1245499A>T
CA152433741
dbSNP
7
g.1245500G>C
CA2713795036
dbSNP
7
g.1245502A=
CA1682466466
7
g.1245502A>G
CA1682466467
dbSNP
7
g.1245503G>A
CA1682466469
dbSNP
7
g.1245503G=
CA1682466468
7
g.1245506A=
CA1682466470
7
g.1245506A>G
CA832715130
dbSNP
gnomAD v3
gnomAD v4
7
g.1245507G>A
CA1682466472
dbSNP
7
g.1245507G=
CA1682466471
7
g.1245513A=
CA1682466473
7
g.1245513A>G
CA832715131
dbSNP
7
g.1245514G=
CA1682466474
7
g.1245514G>T
CA152433745
dbSNP
gnomAD v3
gnomAD v4
7
g.1245526T>C
CA152433746
dbSNP
gnomAD v3
gnomAD v4
7
g.1245526T=
CA1682466475
7
g.1245527A=
CA1682466476
7
g.1245527A>C
CA152433766
dbSNP
gnomAD v3
gnomAD v4
7
g.1245527dup
CA832715133
dbSNP
7
g.1245528C=
CA1682466477
7
g.1245528C>T
CA1682466478
dbSNP
7
g.1245529T>C
CA915413733
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
7
g.1245529T=
CA1682466479
7
g.1245531T>C
CA2774122027
7
g.1245535A=
CA1682466480
7
g.1245535A>C
CA1097498459
gnomAD v3
gnomAD v4
7
g.1245535A>T
CA1682466481
dbSNP
7
g.1245536C=
CA1682466482
7
g.1245536C>G
CA152433768
dbSNP
7
g.1245537T>A
CA832715136
dbSNP
gnomAD v3
gnomAD v4
7
g.1245537T=
CA1682466483
7
g.1245538C>T
CA2774122028
7
g.1245539C=
CA1682466484
7
g.1245539C>T
CA1682466485
dbSNP
7
g.1245540C=
CA1682466486
7
g.1245540C>G
CA1097498467
dbSNP
gnomAD v3
gnomAD v4
7
g.1245543G>A
CA832715137
dbSNP
7
g.1245543G=
CA1682466487
7
g.1245547C=
CA1682466488
7
g.1245547C>T
CA1682466489
dbSNP
gnomAD v3
gnomAD v4
7
g.1245548C=
CA1682466490
7
g.1245548C>T
CA1682466491
dbSNP
gnomAD v3
gnomAD v4
7
g.1245549C=
CA1682466492
7
g.1245549C>T
CA832715138
dbSNP
7
g.1245551C>A
CA2506494583
7
g.1245551C=
CA1682466493
7
g.1245551C>G
CA152433770
dbSNP
7
g.1245554_1245556delinsAAC
CA1682466494
7
g.1245558_1245559del
CA832715139
dbSNP
7
g.1245556C=
CA1682466495
7
g.1245556C>T
CA152433775
dbSNP
7
g.1245557_1245561delinsACAGT
CA1682466496
7
g.1245558C=
CA1682466498
7
g.1245558C>G
CA152433778
dbSNP
gnomAD v3
gnomAD v4
7
g.1245558_1245560delinsCAG
CA1682466499
7
g.1245559_1245562del
CA1682466497
dbSNP
7
g.1245559A=
CA1682466500
7
g.1245559A>C
CA1682466501
dbSNP
gnomAD v3
gnomAD v4
7
g.1245559A>T
CA12553366
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
7
g.1245559_1245560del
CA832715142
dbSNP
gnomAD v3
gnomAD v4
7
g.1245560G>A
CA1682466502
dbSNP
7
g.1245560G=
CA1682466503
7
g.1245562C>A
CA1097498474
dbSNP
gnomAD v3
gnomAD v4
7
g.1245562C=
CA1682466506
7
g.1245562C>G
CA1682466504
dbSNP
7
g.1245562C>T
CA1682466505
dbSNP
7
g.1245564T>G
CA1682466508
dbSNP
7
g.1245564T=
CA1682466507
Number of alleles fetched
Previous
Next