×
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.143520275A>C
CA129278182
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
5
g.143520276T>G
CA804972042
dbSNP
5
g.143520276_143520277insAATAAAAATTTTT
CA2524128279
5
g.143520277G>A
CA804972043
dbSNP
5
g.143520277_143520278insAAAC
CA2546514603
5
g.143520279A>G
CA129278183
dbSNP
gnomAD v3
gnomAD v4
5
g.143520282A>T
CA129278184
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
5
g.143520293A>T
CA804972044
dbSNP
5
g.143520296G>A
CA2572201201
5
g.143520296G>T
CA2768721260
5
g.143520300T>C
CA129278185
dbSNP
5
g.143520303A>G
CA129278186
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
5
g.143520304C>T
CA2710114262
dbSNP
5
g.143520309T>C
CA129278187
dbSNP
5
g.143520319C>T
CA804972048
dbSNP
5
g.143520321T>A
CA2605008420
dbSNP
gnomAD v3
gnomAD v4
5
g.143520321T>C
CA2563651658
dbSNP
gnomAD v3
gnomAD v4
5
g.143520324C>A
CA2710091232
dbSNP
5
g.143520328_143520329del
CA804972049
dbSNP
gnomAD v3
gnomAD v4
5
g.143520327C>T
CA2768721261
5
g.143520329C>A
CA2768721262
5
g.143520330_143520331insG
CA1082406864
dbSNP
gnomAD v3
gnomAD v4
5
g.143520331C>A
CA2768721263
5
g.143520333G>A
CA129278188
dbSNP
gnomAD v3
gnomAD v4
5
g.143520336G>A
CA2605008421
dbSNP
gnomAD v3
gnomAD v4
5
g.143520339A>G
CA1082406870
dbSNP
gnomAD v3
gnomAD v4
5
g.143520347C>T
CA129278189
dbSNP
gnomAD v3
gnomAD v4
5
g.143520348T>C
CA563131427
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
5
g.143520354T>G
CA2710293936
dbSNP
5
g.143520356C>T
CA2710114282
dbSNP
5
g.143520361_143520370del
CA804972059
dbSNP
5
g.143520359T>A
CA2710089134
dbSNP
5
g.143520360A>G
CA1082406876
dbSNP
gnomAD v3
gnomAD v4
5
g.143520361T>C
CA2710293938
dbSNP
5
g.143520366C>A
CA2710114301
dbSNP
5
g.143520367del
CA2497122539
dbSNP
Number of alleles fetched
Previous
Next