×
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
14
g.54904816G>A
CA260532398
dbSNP
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54904816G=
CA2138239128
14
g.54904819G>C
CA614283611
dbSNP
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54904819G=
CA2138239130
14
g.54904824T>A
CA2554624136
14
g.54904825T>A
CA2512253608
14
g.54904826A=
CA2138239131
14
g.54904826A>C
CA260532400
dbSNP
dbSNP
gnomAD v3
gnomAD v4
14
g.54904831T>A
CA2729748959
dbSNP
14
g.54904835G>A
CA706940938
dbSNP
gnomAD v3
gnomAD v4
14
g.54904835G=
CA2138239132
14
g.54904836A=
CA2138239134
14
g.54904836A>T
CA963339729
dbSNP
gnomAD v3
gnomAD v4
14
g.54904838A=
CA2138239135
14
g.54904838_54904839insAATAGGAACACTTTTACATTGTTG
CA2138239136
dbSNP
14
g.54904839_54904840delinsGT
CA2138239137
14
g.54904840del
CA2138239139
dbSNP
dbSNP
14
g.54904840T>G
CA963339733
dbSNP
gnomAD v3
gnomAD v4
14
g.54904840T=
CA2138239140
14
g.54904842G>A
CA260532402
dbSNP
dbSNP
gnomAD v3
gnomAD v4
14
g.54904842G=
CA2138239142
14
g.54904844T>C
CA260532406
dbSNP
dbSNP
gnomAD v3
gnomAD v4
14
g.54904844T=
CA2138239143
14
g.54904850T>C
CA963339744
dbSNP
gnomAD v3
gnomAD v4
14
g.54904850T=
CA2138239145
14
g.54904851G>A
CA2801652124
14
g.54904852C=
CA2138239146
14
g.54904852C>G
CA963339747
dbSNP
gnomAD v3
gnomAD v4
14
g.54904858G>C
CA963339748
dbSNP
gnomAD v3
gnomAD v4
14
g.54904858G=
CA2138239147
14
g.54904861C>A
CA2581171529
14
g.54904861C=
CA2138239149
14
g.54904861C>G
CA2581171528
14
g.54904861C>T
CA14048209
dbSNP
dbSNP
dbSNP
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54904862G>A
CA260532411
dbSNP
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54904862G=
CA2138239151
14
g.54904862G>T
CA260532413
dbSNP
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54904863A=
CA2138239153
14
g.54904863A>C
CA260532415
dbSNP
dbSNP
14
g.54904864_54904869delinsATTTAT
CA2138239154
14
g.54904865T>C
CA2729671285
dbSNP
14
g.54904868_54904872del
CA2138239156
dbSNP
14
g.54904866T>C
CA260532416
dbSNP
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54904866T=
CA2138239157
14
g.54904868A=
CA2138239159
14
g.54904868A>C
CA260532418
dbSNP
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54904877G=
CA2138239160
14
g.54904877G>T
CA706940943
dbSNP
gnomAD v3
gnomAD v4
14
g.54904883C>G
CA2593414808
dbSNP
gnomAD v3
gnomAD v4
14
g.54904886T>A
CA260532420
dbSNP
dbSNP
gnomAD v3
gnomAD v4
Number of alleles fetched
Previous
Next