Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.63593672G>ACA340639277ITGB3BP,PGM1c.184G>A (p.Asp62Asn)
n.50C>T
 dbSNP
1g.63593672G>CCA156392ITGB3BP,PGM1c.184G>C (p.Asp62His)
n.50C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched