Allele Registry

Canonical Allele Identifier: PA322965

Gene: CBS HGNC NCBI

MaveDb:

Score 0.8111367556

Score 0.384

Score 0.8956

Score 0.3349127423

ClinVar RCV:

RCV000556147

RCV000726462

RCV002310758

RCV002517164

RCV003330558

ClinVar Variation:

212851

HGVS (amino-acid)	Matching Registered Transcripts
NP_000062.1:p.Arg224Cys	CA322963 NM_000071.3:c.670C>T CA2579812679 NM_000071.3:c.670_672delinsTGT