ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
3
g.38599023G>A
CA059273
SCN5A
c.1918C>T (p.Pro640Ser)
c.1789C>T (p.Pro597Ser)
dbSNP
ExAC
gnomAD v2
gnomAD v4
3
g.38599023G>C
CA015572
SCN5A
c.1918C>G (p.Pro640Ala)
c.1789C>G (p.Pro597Ala)
ClinVar
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
Previous
Next