ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
17
g.63941957A>T
CA117848
SCN4A
c.4325T>A (p.Val1442Glu)
ClinVar
dbSNP
gnomAD v4
17
g.63941957A=
CA2270161194
SCN4A
c.4325T= (p.Val1442=)
dbSNP
Number of alleles fetched
Previous
Next