Allele Registry

Canonical Allele Identifier: PA2579797044

Gene: CBS HGNC NCBI

MaveDb:

Score 0.1046365913

Score 0.2698805012

Score 0.195

Score 0.1851

HGVS (amino-acid)	Matching Registered Transcripts
NP_000062.1:p.Thr236Pro	CA410600538 NM_000071.3:c.706A>C CA2579804220 NM_000071.3:c.706_708delinsCCT CA2579804221 NM_000071.3:c.706_708delinsCCA