×
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
2
g.41046400A=
CA1247238150
2
g.41046400A>G
CA46238395
dbSNP
2
g.41046403A=
CA1247238151
2
g.41046404C>G
CA2527057739
dbSNP
2
g.41046405dup
CA46238396
dbSNP
2
g.41046407T>C
CA46238397
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
2
g.41046407T=
CA1247238152
2
g.41046409T>C
CA46238398
dbSNP
2
g.41046409T=
CA1247238153
2
g.41046415T>C
CA46238399
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
2
g.41046415T=
CA1247238154
2
g.41046420A=
CA1247238156
2
g.41046420A>T
CA1247238155
dbSNP
2
g.41046421C=
CA1247238157
2
g.41046421C>T
CA46238400
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
2
g.41046422G>A
CA768733801
dbSNP
2
g.41046422G=
CA1247238158
2
g.41046423G>A
CA1247238160
dbSNP
2
g.41046423G=
CA1247238159
2
g.41046425A=
CA1247238161
2
g.41046425A>C
CA768733802
dbSNP
2
g.41046427A=
CA1247238162
2
g.41046427A>G
CA532184683
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
2
g.41046428T>A
CA532184684
dbSNP
gnomAD v2
2
g.41046428T>C
CA768733822
dbSNP
2
g.41046428T=
CA1247238163
2
g.41046429_41046430delinsGT
CA1247238164
2
g.41046432del
CA1029770287
dbSNP
gnomAD v3
gnomAD v4
2
g.41046432T>G
CA768733828
dbSNP
2
g.41046432T=
CA1247238165
2
g.41046434G=
CA1247238166
2
g.41046434G>T
CA1029770290
dbSNP
gnomAD v3
gnomAD v4
2
g.41046437A=
CA1247238167
2
g.41046437A>C
CA46238401
dbSNP
gnomAD v3
gnomAD v4
2
g.41046441A>T
CA2699364546
dbSNP
2
g.41046443A=
CA1247238168
2
g.41046443A>T
CA1247238169
dbSNP
2
g.41046444G>A
CA1247238171
dbSNP
2
g.41046444G=
CA1247238170
2
g.41046448G>A
CA1029770295
dbSNP
gnomAD v3
gnomAD v4
2
g.41046448G=
CA1247238172
2
g.41046448G>T
CA1247238173
dbSNP
2
g.41046449T>A
CA768733834
dbSNP
2
g.41046449T=
CA1247238174
2
g.41046450G>A
CA2699364569
dbSNP
2
g.41046451G>A
CA1029770312
dbSNP
gnomAD v3
gnomAD v4
2
g.41046451G=
CA1247238175
2
g.41046452T>G
CA2556276220
2
g.41046453G>T
CA2749625873
2
g.41046454G>A
CA2749625874
2
g.41046455C>T
CA2749625875
2
g.41046457G>A
CA46238402
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
2
g.41046457G=
CA1247238176
2
g.41046460G>A
CA46238403
dbSNP
gnomAD v3
gnomAD v4
2
g.41046460G>C
CA46238404
dbSNP
2
g.41046460G=
CA1247238177
2
g.41046464C=
CA1247238178
2
g.41046464C>G
CA1029770326
dbSNP
gnomAD v3
gnomAD v4
2
g.41046468C>A
CA46238405
dbSNP
2
g.41046468C=
CA1247238179
2
g.41046470C=
CA1247238180
2
g.41046470C>G
CA46238406
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
2
g.41046471C>A
CA2749625876
2
g.41046473T>A
CA768733857
dbSNP
gnomAD v3
gnomAD v4
2
g.41046473T=
CA1247238181
2
g.41046475A=
CA1247238182
2
g.41046475A>T
CA768733869
dbSNP
2
g.41046476C>A
CA1247238184
dbSNP
2
g.41046476C=
CA1247238183
2
g.41046476C>G
CA768733872
dbSNP
2
g.41046477T>A
CA2553862335
2
g.41046479G>C
CA646761642
COSMIC
2
g.41046481C>A
CA1247238186
dbSNP
gnomAD v3
gnomAD v4
2
g.41046481C=
CA1247238185
2
g.41046481C>G
CA532184685
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
2
g.41046481C>T
CA1029770330
dbSNP
gnomAD v3
gnomAD v4
2
g.41046486G>A
CA46238407
dbSNP
gnomAD v3
gnomAD v4
2
g.41046486G=
CA1247238188
2
g.41046486G>T
CA1247238187
dbSNP
gnomAD v3
gnomAD v4
2
g.41046488A=
CA1247238189
2
g.41046488A>G
CA768733884
dbSNP
gnomAD v3
gnomAD v4
2
g.41046491T>C
CA46238408
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
2
g.41046491T=
CA1247238190
2
g.41046494A>G
CA2749625877
2
g.41046498G>A
CA768733889
dbSNP
gnomAD v3
gnomAD v4
2
g.41046498G>C
CA1029770337
dbSNP
gnomAD v3
gnomAD v4
2
g.41046498G=
CA1247238191
2
g.41046499A=
CA1247238192
2
g.41046499A>G
CA46238409
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
2
g.41046500T>G
CA46238410
dbSNP
gnomAD v3
gnomAD v4
2
g.41046500T=
CA1247238193
Number of alleles fetched
Previous
Next