Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.94063250A>GCA226911ABCA4c.1622T>C (p.Leu541Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94063250A=CA1140726149ABCA4c.1622T= (p.Leu541=)
dbSNP
1g.94063250A>TCA341280461ABCA4c.1622T>A (p.Leu541Gln)
dbSNP

Number of alleles fetched