Allele Registry

Canonical Allele Identifier: PA2579792438

Gene: CBS HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_000062.1:p.Glu514Ser	CA2579809736 NM_000071.3:c.1540_1542delinsAGT CA2579809737 NM_000071.3:c.1540_1541delinsTC