×
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
X
g.133003155_133003157del
CA644520062
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.133003153A=
CA2459258427
X
g.133003153A>G
CA335926124
dbSNP
X
g.133003154A=
CA2459258428
X
g.133003154A>T
CA2459258429
dbSNP
X
g.133003158A=
CA2459258430
X
g.133003158A>G
CA871651061
dbSNP
X
g.133003159C=
CA2459258431
X
g.133003159C>T
CA2459258432
dbSNP
X
g.133003161C=
CA2459258433
X
g.133003161C>T
CA915926088
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.133003169A=
CA2459258434
X
g.133003169A>G
CA1137442586
dbSNP
gnomAD v3
gnomAD v4
X
g.133003173C=
CA2459258435
X
g.133003173C>T
CA871651065
dbSNP
gnomAD v3
gnomAD v4
X
g.133003174A>G
CA2739088347
dbSNP
X
g.133003175T>C
CA1137442587
dbSNP
gnomAD v3
gnomAD v4
X
g.133003175T=
CA2459258436
X
g.133003176G>A
CA1137442588
dbSNP
gnomAD v3
gnomAD v4
X
g.133003176G=
CA2459258437
X
g.133003177T>C
CA335926125
dbSNP
gnomAD v3
gnomAD v4
X
g.133003177T=
CA2459258438
X
g.133003178_133003200delinsGAAAAATATTATCAATTTTCACA
CA2459258439
X
g.133003179A=
CA2459258440
X
g.133003179A>G
CA335926126
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.133003179_133003200del
CA871651077
dbSNP
X
g.133003187T>G
CA335926127
dbSNP
gnomAD v3
gnomAD v4
X
g.133003187T=
CA2459258441
X
g.133003191A=
CA2459258442
X
g.133003191A>G
CA335926128
dbSNP
X
g.133003197C>A
CA2823639440
X
g.133003199C>A
CA871651091
dbSNP
gnomAD v3
gnomAD v4
X
g.133003199C=
CA2459258443
X
g.133003199C>T
CA644520070
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.133003206T>C
CA2459258445
dbSNP
X
g.133003206T=
CA2459258444
X
g.133003207C=
CA2459258446
X
g.133003207C>T
CA871651098
dbSNP
gnomAD v3
gnomAD v4
X
g.133003212G=
CA2459258447
X
g.133003212G>T
CA335926129
dbSNP
gnomAD v3
gnomAD v4
X
g.133003214C>A
CA871651103
dbSNP
gnomAD v3
gnomAD v4
X
g.133003214C=
CA2459258448
X
g.133003215T>A
CA871651111
dbSNP
gnomAD v3
gnomAD v4
X
g.133003215T=
CA2459258449
X
g.133003228A=
CA2459258450
X
g.133003228A>G
CA335926130
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.133003239A=
CA2459258451
X
g.133003239A>C
CA2601423046
gnomAD v3
gnomAD v4
X
g.133003239A>G
CA1137442597
dbSNP
X
g.133003244C>A
CA2499991773
X
g.133003246C>G
CA2601423047
gnomAD v3
gnomAD v4
X
g.133003250T>C
CA335926131
dbSNP
gnomAD v3
gnomAD v4
X
g.133003250T=
CA2459258452
X
g.133003253C=
CA2459258453
X
g.133003253C>G
CA2459258454
dbSNP
Number of alleles fetched
Previous
Next