×
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
11
g.130759176A=
CA2009160588
11
g.130759176A>G
CA231067427
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
11
g.130759181A>G
CA2794131566
11
g.130759182T>A
CA602797417
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
11
g.130759182T=
CA2009160590
11
g.130759184A=
CA2009160592
11
g.130759184A>G
CA231067428
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
11
g.130759188G=
CA2009160593
11
g.130759188G>T
CA2009160594
dbSNP
11
g.130759192A>G
CA2794131567
11
g.130759194A=
CA2009160595
11
g.130759194A>G
CA231067429
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
11
g.130759195T>C
CA602797423
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
11
g.130759195T=
CA2009160597
11
g.130759198A=
CA2009160599
11
g.130759198A>T
CA2009160600
dbSNP
11
g.130759204C=
CA2009160602
11
g.130759204C>G
CA2009160604
dbSNP
11
g.130759204C>T
CA2009160605
dbSNP
11
g.130759205A>G
CA2725428151
dbSNP
11
g.130759206A=
CA2009160608
11
g.130759206A>G
CA2009160609
dbSNP
11
g.130759209A=
CA2009160612
11
g.130759209A>G
CA673438416
dbSNP
11
g.130759213A=
CA2009160614
11
g.130759213A>G
CA2009160615
dbSNP
gnomAD v3
gnomAD v4
11
g.130759217G=
CA2009160616
11
g.130759217G>T
CA2009160618
dbSNP
gnomAD v3
gnomAD v4
11
g.130759218A>G
CA2558319694
11
g.130759219G>A
CA2794131568
11
g.130759220C=
CA2009160623
11
g.130759220C>G
CA673438418
dbSNP
gnomAD v3
gnomAD v4
11
g.130759223G>C
CA673438424
dbSNP
11
g.130759223G=
CA2009160628
11
g.130759224A=
CA2009160633
11
g.130759224A>T
CA2009160635
dbSNP
11
g.130759227C>A
CA13403195
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
11
g.130759227C=
CA2009160639
11
g.130759227C>G
CA2581058158
11
g.130759227C>T
CA2581058159
11
g.130759232C=
CA2009160642
11
g.130759232C>G
CA231067430
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
11
g.130759238C=
CA2009160648
11
g.130759238C>G
CA943580347
dbSNP
gnomAD v3
gnomAD v4
11
g.130759239T>C
CA231067431
dbSNP
gnomAD v3
gnomAD v4
11
g.130759239T=
CA2009160651
11
g.130759242T>C
CA2009160656
dbSNP
11
g.130759242T=
CA2009160655
11
g.130759250A=
CA2009160659
11
g.130759250A>G
CA673438430
dbSNP
gnomAD v3
gnomAD v4
Number of alleles fetched
Previous
Next