Allele Registry

Canonical Allele Identifier: PA2827070717

Gene: CBS HGNC NCBI

ClinVar RCV:

RCV000554628

RCV000592999

RCV002315524

RCV002517169

ClinVar Variation:

212866

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308001.1:p.Val320Met	CA325175 NM_001321072.1:c.958G>A