Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.5226728A>TCA125350HBBc.164T>A (p.Val55Asp)
n.96T>A
n.215T>A
c.148T>A (p.Leu50Ile)
ClinVar dbSNP
11g.5226728A>GCA379273916HBBc.164T>C (p.Val55Ala)
n.96T>C
n.215T>C
c.148T>C (p.Leu50=)
ClinVar dbSNP

Number of alleles fetched