Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189565568C>TCA430502844SLC40A1c.546G>A (p.Gln182=)
c.426G>A (p.Gln142=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189565568C>ACA117521SLC40A1c.546G>T (p.Gln182His)
c.426G>T (p.Gln142His)
ClinVar dbSNP

Number of alleles fetched