Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.93998061C>TCA119130ABCA4c.6529G>A (p.Asp2177Asn)
c.2905G>A (p.Asp969Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.93998061C>GCA341276650ABCA4c.6529G>C (p.Asp2177His)
c.2905G>C (p.Asp969His)
dbSNP

Number of alleles fetched