ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
5
g.141331138G>C
CA361340271
PCDHGA1
c.454G>C (p.Val152Leu)
dbSNP
5
g.141331138G>A
CA3466613
PCDHGA1
c.454G>A (p.Val152Ile)
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
Previous
Next