ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.51765675G>A
CA163107
SCN8A
c.2549G>A (p.Arg850Gln)
c.396G>A
c.553G>A
n.2677G>A
c.2582G>A (p.Arg861Gln)
ClinVar
dbSNP
gnomAD v4
12
g.51765675G=
CA2036183871
SCN8A
c.2549G= (p.Arg850=)
c.396G=
c.553G=
n.2677G=
c.2582G= (p.Arg861=)
dbSNP
Number of alleles fetched
Previous
Next