ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
8
g.118110690G>T
CA252312
EXT1
c.357C>A (p.Tyr119Ter)
c.73+284C>A (n.73+284C>A)
ClinVar
dbSNP
8
g.118110690G>A
CA462645001
EXT1
c.357C>T (p.Tyr119=)
c.73+284C>T (n.73+284C>T)
dbSNP
Number of alleles fetched
Previous
Next