ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.93998061C>T
CA119130
ABCA4
c.6529G>A (p.Asp2177Asn)
c.2905G>A (p.Asp969Asn)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
1
g.93998061C>G
CA341276650
ABCA4
c.6529G>C (p.Asp2177His)
c.2905G>C (p.Asp969His)
dbSNP
Number of alleles fetched
Previous
Next