Allele Registry

Canonical Allele Identifier: PA2579802294

Gene: CBS HGNC NCBI

MaveDb:

Score 0.6910189983

Score 0.5498

Score 0.4174

Score 0.5163130683

HGVS (amino-acid)	Matching Registered Transcripts
NP_000062.1:p.Pro49Arg	CA321103880 NM_000071.3:c.146C>G