Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.218814696G>ACA350595068CYP27A1c.1415G>A (p.Gly472Glu)
n.2127G>A
c.995G>A (p.Gly332Glu)
 ClinVar dbSNP
2g.218814696G>CCA345181CYP27A1c.1415G>C (p.Gly472Ala)
n.2127G>C
c.995G>C (p.Gly332Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched