×
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
5
g.4196446G>A
CA113505987
dbSNP
5
g.4196446G=
CA1524047065
5
g.4196446G>T
CA2537685859
5
g.4196448G>A
CA810715887
dbSNP
gnomAD v3
gnomAD v4
5
g.4196448G=
CA1524047066
5
g.4196450G>A
CA2765118595
5
g.4196452T>C
CA810715894
dbSNP
gnomAD v3
gnomAD v4
5
g.4196452T=
CA1524047067
5
g.4196457C>T
CA2591304518
gnomAD v3
gnomAD v4
5
g.4196460C>A
CA810715895
dbSNP
gnomAD v3
gnomAD v4
5
g.4196460C=
CA1524047068
5
g.4196462_4196463delinsTC
CA1524047069
5
g.4196463del
CA1524047070
dbSNP
5
g.4196463C=
CA1524047071
5
g.4196463C>G
CA113505988
dbSNP
5
g.4196463C>T
CA810715902
dbSNP
gnomAD v3
gnomAD v4
5
g.4196464G>A
CA810715909
dbSNP
gnomAD v3
gnomAD v4
5
g.4196464G=
CA1524047072
5
g.4196464G>T
CA915084332
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
5
g.4196465G>C
CA2708074219
dbSNP
5
g.4196468C>A
CA2539843473
5
g.4196470A=
CA1524047073
5
g.4196470A>C
CA1524047074
dbSNP
5
g.4196473T>C
CA113505989
dbSNP
gnomAD v3
gnomAD v4
5
g.4196473T=
CA1524047075
5
g.4196476T>C
CA810715930
dbSNP
gnomAD v3
gnomAD v4
5
g.4196476T=
CA1524047076
5
g.4196482T>A
CA1524047078
dbSNP
5
g.4196482T=
CA1524047077
5
g.4196486G>A
CA113505990
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
5
g.4196486G=
CA1524047079
5
g.4196487_4196490dup
CA1524047080
dbSNP
5
g.4196489G=
CA1524047081
5
g.4196489G>T
CA1524047082
dbSNP
5
g.4196490A=
CA1524047083
5
g.4196490A>T
CA1524047084
dbSNP
5
g.4196495C=
CA1524047085
5
g.4196495C>T
CA113505991
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
5
g.4196496T>C
CA1072738676
dbSNP
gnomAD v3
gnomAD v4
5
g.4196496T=
CA1524047086
5
g.4196498A=
CA1524047087
5
g.4196498A>C
CA113505992
dbSNP
gnomAD v3
gnomAD v4
5
g.4196503A>C
CA2591304519
dbSNP
gnomAD v3
gnomAD v4
5
g.4196504C>A
CA113505993
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
5
g.4196504C=
CA1524047088
5
g.4196508A=
CA1524047089
5
g.4196508A>C
CA1524047090
dbSNP
5
g.4196508A>G
CA113505994
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
5
g.4196508A>T
CA1524047091
dbSNP
5
g.4196509C>A
CA1524047093
dbSNP
Number of alleles fetched
Previous
Next