Allele Registry

Canonical Allele Identifier: PA2579795602

Gene: CBS HGNC NCBI

MaveDb:

Score 0.2954180781

Score 0.4996545769

Score 0.5703

Score 0.5148

HGVS (amino-acid)	Matching Registered Transcripts
NP_000062.1:p.Val168Leu	CA410601371 NM_000071.3:c.502G>T CA410601372 NM_000071.3:c.502G>C CA2579803311 NM_000071.3:c.502_504delinsTTA CA2579803312 NM_000071.3:c.502_504delinsCTT