×
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
6
g.54400498del
CA139120415
dbSNP
6
g.54400502C>A
CA1089145313
dbSNP
gnomAD v3
gnomAD v4
6
g.54400503C>A
CA2771117143
6
g.54400512G>A
CA825936938
dbSNP
6
g.54400512G>T
CA825936935
dbSNP
6
g.54400517C>T
CA2711575280
dbSNP
6
g.54400518_54400525del
CA2497145393
dbSNP
6
g.54400518A>G
CA2711575281
dbSNP
6
g.54400520C>G
CA2711501615
dbSNP
6
g.54400520C>T
CA825936939
dbSNP
gnomAD v3
gnomAD v4
6
g.54400521C>T
CA2711575282
dbSNP
6
g.54400524A>G
CA2711575283
dbSNP
6
g.54400528T>G
CA650348454
COSMIC
6
g.54400531C>T
CA825936940
dbSNP
6
g.54400533T>C
CA2505567900
6
g.54400533T>G
CA2711575284
dbSNP
6
g.54400534A>G
CA567362921
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
6
g.54400536C>T
CA2508897055
6
g.54400542G>T
CA650348457
COSMIC
6
g.54400543T>C
CA825936943
dbSNP
6
g.54400545T>G
CA139120419
dbSNP
6
g.54400547G>T
CA139120422
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
6
g.54400552A>T
CA139120433
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
6
g.54400553G>T
CA650348472
COSMIC
6
g.54400561A>G
CA2771117144
6
g.54400562T>A
CA2711575285
dbSNP
6
g.54400563A>G
CA1089145321
dbSNP
gnomAD v3
gnomAD v4
6
g.54400568A>C
CA2711575286
dbSNP
6
g.54400571A>C
CA139120438
dbSNP
6
g.54400571A>T
CA567362922
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
6
g.54400573T>A
CA2711575288
dbSNP
6
g.54400575A>G
CA2711575289
dbSNP
6
g.54400578A>G
CA2711575290
dbSNP
6
g.54400578A>T
CA1089145329
dbSNP
gnomAD v3
gnomAD v4
6
g.54400584A>C
CA2521590759
dbSNP
6
g.54400595C>A
CA2711947716
dbSNP
6
g.54400597A>G
CA139120442
dbSNP
gnomAD v3
gnomAD v4
6
g.54400598T>C
CA139120445
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
6
g.54400599del
CA2517212070
Number of alleles fetched
Previous
Next