ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
3
g.38585749G>T
CA352141497
SCN5A
c.2729C>A (p.Ser910Ter)
c.2600C>A (p.Ser867Ter)
dbSNP
3
g.38585749G>A
CA016445
SCN5A
c.2729C>T (p.Ser910Leu)
c.2600C>T (p.Ser867Leu)
ClinVar
dbSNP
gnomAD v2
gnomAD v4
Number of alleles fetched
Previous
Next