ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
3
g.38587413C>G
CA016130
SCN5A
c.2423G>C (p.Arg808Pro)
c.2294G>C (p.Arg765Pro)
ClinVar
dbSNP
3
g.38587413C>T
CA016124
SCN5A
c.2423G>A (p.Arg808His)
c.2294G>A (p.Arg765His)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
COSMIC
COSMIC
COSMIC
Number of alleles fetched
Previous
Next