ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.128911444T>A
CA383246341
KCNJ5
c.171T>A (p.Ser57Arg)
dbSNP
gnomAD v3
gnomAD v4
11
g.128911444T>C
CA291749
KCNJ5
c.171T>C (p.Ser57=)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
Previous
Next