ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.35848681G>C
CA250096
NPHS1
c.1126C>G (p.Leu376Val)
n.133C>G
ClinVar
dbSNP
gnomAD v2
gnomAD v4
19
g.35848681G>A
CA507085075
NPHS1
c.1126C>T (p.Leu376=)
n.133C>T
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
Previous
Next