ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
6
g.80168885A>T
CA224283
BCKDHB
c.488A>T (p.Glu163Val)
c.278A>T (p.Glu93Val)
n.572A>T
n.518A>T
n.511A>T
ClinVar
dbSNP
6
g.80168885A=
CA1640937740
BCKDHB
c.488A= (p.Glu163=)
c.278A= (p.Glu93=)
n.572A=
n.518A=
n.511A=
dbSNP
Number of alleles fetched
Previous
Next