Allele Registry

Canonical Allele Identifier: PA323485

Gene: CBS HGNC NCBI

MaveDb:

Score 0.2801

Score 0.1633089677

Score 0.6494604989

Score 0.7134

ClinVar RCV:

RCV000198945

RCV001081627

RCV002229027

RCV002381662

ClinVar Variation:

212871

HGVS (amino-acid)	Matching Registered Transcripts
NP_000062.1:p.Arg45Trp	CA323483 NM_000071.3:c.133C>T