ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
17
g.41758470G>A
CA308541
JUP
c.1702C>T (p.His568Tyr)
n.300C>T
c.1753C>T (p.His585Tyr)
ClinVar
dbSNP
gnomAD v2
gnomAD v4
17
g.41758470G=
CA2260170813
JUP
c.1702C= (p.His568=)
n.300C=
c.1753C= (p.His585=)
dbSNP
Number of alleles fetched
Previous
Next