Allele Registry

Canonical Allele Identifier: PA916024758

Gene: CBS HGNC NCBI

ClinVar RCV:

RCV001833290

RCV001859452

RCV002310885

ClinVar Variation:

263891

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308001.1:p.Arg27Ser	CA10587954 NM_001321072.1:c.79C>A CA2579812174 NM_001321072.1:c.79_81delinsTCT CA2579812175 NM_001321072.1:c.79_81delinsAGT