ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
22
g.50626976A>C
CA115962
ARSA
c.542T>G (p.Ile181Ser)
c.284T>G (p.Ile95Ser)
n.1046T>G
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
22
g.50626976A=
CA2410959348
ARSA
c.542T= (p.Ile181=)
c.284T= (p.Ile95=)
n.1046T=
dbSNP
dbSNP
Number of alleles fetched
Previous
Next