×
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
Y
g.12078614C>A
CA2541913875
Y
g.12078616C>A
CA2510659738
Y
g.12078619C>G
CA1139190754
gnomAD v3
gnomAD v4
Y
g.12078620T>C
CA2739258909
dbSNP
Y
g.12078621C>A
CA2525245829
Y
g.12078621C>T
CA1139190757
gnomAD v3
gnomAD v4
Y
g.12078626C=
CA2470514545
Y
g.12078626C>T
CA337707817
dbSNP
gnomAD v3
gnomAD v4
Y
g.12078627G>A
CA1139190765
gnomAD v3
gnomAD v4
Y
g.12078635C>A
CA2470514546
dbSNP
Y
g.12078635C=
CA2470514547
Y
g.12078635C>T
CA337707818
dbSNP
Y
g.12078641C>A
CA2550968821
Y
g.12078644T>C
CA2504747968
Y
g.12078646G>A
CA2525245830
Y
g.12078674A>C
CA2543911546
Y
g.12078676C>A
CA2824875463
Y
g.12078681A>G
CA1139190770
gnomAD v3
gnomAD v4
Y
g.12078682G>T
CA2549245407
Y
g.12078683A=
CA2470514548
Y
g.12078683A>T
CA337707819
dbSNP
gnomAD v3
gnomAD v4
Y
g.12078684T>C
CA1139190779
dbSNP
gnomAD v3
gnomAD v4
Y
g.12078684T=
CA2470514549
Y
g.12078685G>A
CA1139190796
gnomAD v3
gnomAD v4
Y
g.12078694A>T
CA2824875464
Y
g.12078698G>A
CA1139190797
dbSNP
gnomAD v3
gnomAD v4
Y
g.12078698G=
CA2470514550
Y
g.12078701G>T
CA2824875465
Y
g.12078703G=
CA2470514551
Y
g.12078703G>T
CA337707820
dbSNP
Y
g.12078707dup
CA1139190799
gnomAD v3
gnomAD v4
Number of alleles fetched
Previous
Next