Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.94014622G>TCA227304ABCA4c.5381C>A (p.Ala1794Asp)
c.1757C>A (p.Ala586Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.94014622G=CA1140725866ABCA4c.5381C= (p.Ala1794=)
c.1757C= (p.Ala586=)
dbSNP

Number of alleles fetched