Allele Registry

Canonical Allele Identifier: PA2826132681

Gene: CBS HGNC NCBI

ClinVar RCV:

RCV000178709

RCV000723426

RCV001804908

RCV002228790

ClinVar Variation:

197625

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171479.1:p.Arg125Gln	CA275291 NM_001178008.3:c.374G>A