Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.94015766G>ACA341281595ABCA4c.5285C>T (p.Ala1762Val)
c.1661C>T (p.Ala554Val)
dbSNP gnomAD v2 gnomAD v4
1g.94015766G>TCA119142ABCA4c.5285C>A (p.Ala1762Asp)
c.1661C>A (p.Ala554Asp)
ClinVar dbSNP

Number of alleles fetched