Allele Registry

Canonical Allele Identifier: PA916024385

Gene: CBS HGNC NCBI

ClinVar RCV:

RCV000196277

RCV001276190

ClinVar Variation:

212850

HGVS (amino-acid)	Matching Registered Transcripts
NP_001307227.1:p.Asn212Lys	CA320697 NM_001320298.2:c.636C>G CA410600845 NM_001320298.2:c.636C>A