ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
17
g.63947091C>T
CA263213
SCN4A
c.3395G>A (p.Arg1132Gln)
ClinVar
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
17
g.63947091C=
CA2270163779
SCN4A
c.3395G= (p.Arg1132=)
dbSNP
Number of alleles fetched
Previous
Next