Allele Registry

Canonical Allele Identifier: PA916024389

Gene: CBS HGNC NCBI

ClinVar RCV:

RCV000556147

RCV000726462

RCV002310758

RCV002517164

RCV003330558

ClinVar Variation:

212851

HGVS (amino-acid)	Matching Registered Transcripts
NP_001307227.1:p.Arg224Cys	CA322963 NM_001320298.2:c.670C>T CA2579812679 NM_001320298.2:c.670_672delinsTGT