Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.80200943T>CCA224341BCKDHBc.752T>C (p.Val251Ala)
c.542T>C (p.Val181Ala)
n.930T>C
n.782T>C
n.869T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.80200943T=CA1640952038BCKDHBc.752T= (p.Val251=)
c.542T= (p.Val181=)
n.930T=
n.782T=
n.869T=
 dbSNP

Number of alleles fetched