Allele Registry

Canonical Allele Identifier: PA096375

Gene: CBS HGNC NCBI

MaveDb:

Score 0.7890889642

Score 0.2196

Score 0.9544041451

Score 0.6586

ClinVar RCV:

RCV000723460

RCV001805199

RCV002232228

RCV003459461

ClinVar Variation:

496864

HGVS (amino-acid)	Matching Registered Transcripts
NP_000062.1:p.Glu302Lys	CA321091356 NM_000071.3:c.904G>A