ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
17
g.63947100C>G
CA292962517
SCN4A
c.3386G>C (p.Arg1129Pro)
ClinVar
dbSNP
17
g.63947100C>T
CA345719
SCN4A
c.3386G>A (p.Arg1129Gln)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
Previous
Next