Allele Registry

Canonical Allele Identifier: PA2827070545

Gene: CBS HGNC NCBI

ClinVar Allele:

15170

ClinVar RCV:

RCV000000154

RCV000078106

RCV000169466

RCV002227961

RCV002271361

RCV004018522

ClinVar Variation:

131

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308001.1:p.Thr248Met	CA113902 NM_001321072.1:c.743C>T