Allele Registry

Canonical Allele Identifier: PA2826133698

Gene: CBS HGNC NCBI

ClinVar RCV:

RCV000196320

RCV000763061

RCV001853130

RCV003987440

ClinVar Variation:

212881

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171480.1:p.Arg379Trp	CA320740 NM_001178009.3:c.1135C>T