Allele Registry

Canonical Allele Identifier: PA2827070152

Gene: CBS HGNC NCBI

ClinVar RCV:

RCV000196277

RCV001276190

ClinVar Variation:

212850

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308001.1:p.Asn107Lys	CA320697 NM_001321072.1:c.321C>G CA410600845 NM_001321072.1:c.321C>A