Allele Registry

Canonical Allele Identifier: PA2579797033

Gene: CBS HGNC NCBI

MaveDb:

Score 0.0382137042

Score 0.0047

Score 0.0400678165

Score 0.0037

HGVS (amino-acid)	Matching Registered Transcripts
NP_000062.1:p.Thr236Val	CA2579804214 NM_000071.3:c.706_708delinsGTT CA2579804215 NM_000071.3:c.706_707delinsGT