Allele Registry

Canonical Allele Identifier: PA916024753

Gene: CBS HGNC NCBI

ClinVar RCV:

RCV000667483

RCV001175468

RCV002231054

RCV003736733

ClinVar Variation:

340089

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308001.1:p.Arg20Trp	CA10644742 NM_001321072.1:c.58C>T