ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
3
g.122257249C>T
CA435404086
CASR
c.354C>T (p.Asn118=)
n.273C>T
n.213C>T
c.9+2875C>T (n.9+2875C>T)
ClinVar
dbSNP
gnomAD v4
3
g.122257249C>A
CA119487
CASR
c.354C>A (p.Asn118Lys)
n.273C>A
n.213C>A
c.9+2875C>A (n.9+2875C>A)
ClinVar
dbSNP
Number of alleles fetched
Previous
Next