ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
16
g.2299442T>C
CA119217
ABCA3
c.1702A>G (p.Asn568Asp)
c.1528A>G (p.Asn510Asp)
n.2265A>G
ClinVar
dbSNP
16
g.2299442T>G
CA394334068
ABCA3
c.1702A>C (p.Asn568His)
c.1528A>C (p.Asn510His)
n.2265A>C
dbSNP
gnomAD v3
gnomAD v4
Number of alleles fetched
Previous
Next