×
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.54904688C=
CA2138239054
14
g.54904688C>T
CA963339674
dbSNP
gnomAD v3
gnomAD v4
14
g.54904690G>A
CA614283605
dbSNP
dbSNP
gnomAD v2
14
g.54904690G=
CA2138239055
14
g.54904692C>A
CA963339675
dbSNP
gnomAD v3
gnomAD v4
14
g.54904692C=
CA2138239056
14
g.54904694A=
CA2138239057
14
g.54904694A>C
CA2138239058
dbSNP
14
g.54904700T>C
CA706940871
dbSNP
dbSNP
gnomAD v3
gnomAD v4
14
g.54904700T=
CA2138239059
14
g.54904701G>A
CA614283606
dbSNP
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54904701G=
CA2138239061
14
g.54904703T>A
CA260532378
dbSNP
gnomAD v3
gnomAD v4
14
g.54904703T=
CA2138239063
14
g.54904706T>C
CA260532380
dbSNP
dbSNP
gnomAD v3
gnomAD v4
14
g.54904706T=
CA2138239064
14
g.54904708C=
CA2138239066
14
g.54904708C>T
CA614283607
dbSNP
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54904709C=
CA2138239070
14
g.54904709C>G
CA2138239069
dbSNP
14
g.54904710T>C
CA706940891
dbSNP
gnomAD v3
gnomAD v4
14
g.54904710T=
CA2138239072
14
g.54904711C=
CA2138239073
14
g.54904711C>G
CA614283608
dbSNP
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54904721A>G
CA2517210267
14
g.54904736T>C
CA706940894
dbSNP
gnomAD v3
gnomAD v4
14
g.54904736T=
CA2138239075
14
g.54904737C=
CA2138239077
14
g.54904737C>T
CA2138239078
dbSNP
14
g.54904738A>C
CA2801652120
14
g.54904743A=
CA2138239080
14
g.54904743A>G
CA260532382
dbSNP
dbSNP
gnomAD v3
gnomAD v4
14
g.54904745T>G
CA260532384
dbSNP
dbSNP
gnomAD v3
gnomAD v4
14
g.54904745T=
CA2138239082
14
g.54904750G=
CA2138239084
14
g.54904750G>T
CA260532386
dbSNP
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54904751C>A
CA260532388
dbSNP
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54904751C=
CA2138239087
14
g.54904756T>C
CA963339676
dbSNP
gnomAD v3
gnomAD v4
14
g.54904756T=
CA2138239089
14
g.54904761G>A
CA260532390
dbSNP
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54904761G=
CA2138239091
14
g.54904763C>T
CA2801652121
14
g.54904764A=
CA2138239094
14
g.54904764A>G
CA706940901
dbSNP
14
g.54904765A=
CA2138239096
14
g.54904765A>G
CA706940903
dbSNP
dbSNP
gnomAD v3
gnomAD v4
14
g.54904767A=
CA2138239099
14
g.54904767A>G
CA2138239100
dbSNP
14
g.54904768T>C
CA963339703
dbSNP
gnomAD v3
gnomAD v4
Number of alleles fetched
Previous
Next