Allele Registry

Canonical Allele Identifier: PA2827070183

Gene: CBS HGNC NCBI

ClinVar RCV:

RCV000556147

RCV000726462

RCV002310758

RCV002517164

RCV003330558

ClinVar Variation:

212851

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308001.1:p.Arg119Cys	CA322963 NM_001321072.1:c.355C>T CA2579812679 NM_001321072.1:c.355_357delinsTGT