×
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.70872794G=
CA1259764315
2
g.70872794G>T
CA49690011
dbSNP
gnomAD v3
gnomAD v4
2
g.70872798_70872799delinsAC
CA1259764317
2
g.70872799del
CA1259764320
dbSNP
2
g.70872799C>A
CA49690015
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
2
g.70872799C=
CA1259764321
2
g.70872799C>G
CA1259764323
dbSNP
2
g.70872801T>A
CA1259764326
dbSNP
2
g.70872801T=
CA1259764324
2
g.70872810T>C
CA1259764331
dbSNP
2
g.70872810T=
CA1259764330
2
g.70872813A=
CA1259764333
2
g.70872813A>T
CA1032022009
dbSNP
gnomAD v3
gnomAD v4
2
g.70872816A=
CA1259764334
2
g.70872816A>G
CA1259764336
dbSNP
2
g.70872818C>A
CA892639963
dbSNP
2
g.70872818C=
CA1259764338
2
g.70872818C>T
CA1259764340
dbSNP
2
g.70872819C=
CA1259764343
2
g.70872819C>T
CA1259764342
dbSNP
gnomAD v3
gnomAD v4
2
g.70872822T>C
CA49690016
dbSNP
2
g.70872822T=
CA1259764346
2
g.70872831T>A
CA892639970
dbSNP
gnomAD v3
gnomAD v4
2
g.70872831T=
CA1259764348
2
g.70872835A>C
CA2600174772
dbSNP
gnomAD v3
gnomAD v4
2
g.70872838G>T
CA2569884687
2
g.70872841T>C
CA49690017
dbSNP
gnomAD v3
gnomAD v4
2
g.70872841T=
CA1259764350
2
g.70872843G=
CA1259764353
2
g.70872843G>T
CA892639981
dbSNP
2
g.70872844C=
CA1259764354
2
g.70872844C>G
CA2699392101
dbSNP
2
g.70872844C>T
CA49690021
dbSNP
gnomAD v3
gnomAD v4
2
g.70872847G=
CA1259764356
2
g.70872847G>T
CA1259764357
dbSNP
2
g.70872858A=
CA1259764358
2
g.70872858A>T
CA1259764359
dbSNP
2
g.70872859T>G
CA1259764361
dbSNP
2
g.70872859T=
CA1259764360
2
g.70872861T>C
CA892639983
dbSNP
gnomAD v3
gnomAD v4
2
g.70872861T=
CA1259764363
2
g.70872864G>A
CA2750396630
2
g.70872870A>G
CA2699624969
dbSNP
2
g.70872872C>A
CA892639984
dbSNP
2
g.70872872C=
CA1259764365
2
g.70872873T>C
CA49690023
dbSNP
2
g.70872873T=
CA1259764367
2
g.70872874C=
CA1259764368
2
g.70872874C>T
CA892639989
dbSNP
2
g.70872874_70872878delinsCTGTT
CA1259764369
Number of alleles fetched
Previous
Next