Allele Registry

Canonical Allele Identifier: PA2827070603

Gene: CBS HGNC NCBI

ClinVar RCV:

RCV003598642

ClinVar Variation:

2908227

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308001.1:p.Val266Leu	CA410398030 NM_001321072.1:c.796G>T CA410398031 NM_001321072.1:c.796G>C CA2579803099 NM_001321072.1:c.796_798delinsCTT