×
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
18
g.43292211C=
CA2299336672
18
g.43292211C>T
CA2299336673
dbSNP
18
g.43292212T>C
CA2299336675
dbSNP
18
g.43292212T=
CA2299336674
18
g.43292213G=
CA2299336676
18
g.43292213G>T
CA779518700
dbSNP
gnomAD v3
gnomAD v4
18
g.43292218C=
CA2299336677
18
g.43292218C>T
CA2299336678
dbSNP
18
g.43292220T>C
CA2299336680
dbSNP
18
g.43292220T=
CA2299336679
18
g.43292222G>A
CA2299336682
dbSNP
18
g.43292222G=
CA2299336681
18
g.43292223A=
CA2299336683
18
g.43292223A>T
CA2299336684
dbSNP
18
g.43292224C=
CA2299336685
18
g.43292224C>T
CA299539579
dbSNP
gnomAD v3
gnomAD v4
18
g.43292225G>A
CA299539580
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.43292225G=
CA2299336686
18
g.43292225G>T
CA779518707
dbSNP
gnomAD v3
gnomAD v4
18
g.43292227G>A
CA629677592
dbSNP
gnomAD v2
18
g.43292227G=
CA2299336687
18
g.43292229A>C
CA989695480
gnomAD v3
gnomAD v4
18
g.43292235A=
CA2299336688
18
g.43292235A>T
CA299539581
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.43292236C>A
CA989695485
dbSNP
gnomAD v3
gnomAD v4
18
g.43292236C=
CA2299336689
18
g.43292236C>T
CA299539582
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.43292237G>A
CA779518716
dbSNP
gnomAD v3
gnomAD v4
18
g.43292237G>C
CA779518714
dbSNP
gnomAD v3
gnomAD v4
18
g.43292237G=
CA2299336690
18
g.43292244T>A
CA779518730
dbSNP
gnomAD v3
gnomAD v4
18
g.43292244T>C
CA779518724
dbSNP
18
g.43292244T=
CA2299336691
18
g.43292245G>A
CA989695488
dbSNP
gnomAD v3
gnomAD v4
18
g.43292245G=
CA2299336692
18
g.43292246C>A
CA2299336694
dbSNP
18
g.43292246C=
CA2299336695
18
g.43292246C>G
CA2299336693
dbSNP
18
g.43292246C>T
CA299539583
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.43292248A=
CA2299336696
18
g.43292248A>T
CA299539584
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.43292251T>A
CA989695490
dbSNP
gnomAD v3
gnomAD v4
18
g.43292251T=
CA2299336697
18
g.43292252A=
CA2299336698
18
g.43292252A>G
CA779518741
dbSNP
gnomAD v3
gnomAD v4
18
g.43292254A=
CA2299336699
18
g.43292254A>T
CA779518744
dbSNP
18
g.43292256A=
CA2299336700
18
g.43292256A>G
CA2299336701
dbSNP
18
g.43292256_43292261delinsATGACT
CA2299336702
Number of alleles fetched
Previous
Next