Allele Registry

Canonical Allele Identifier: PA2827043023

Gene: CBS HGNC NCBI

ClinVar RCV:

RCV001833290

RCV001859452

RCV002310885

ClinVar Variation:

263891

HGVS (amino-acid)	Matching Registered Transcripts
NP_001307227.1:p.Arg132Ser	CA10587954 NM_001320298.2:c.394C>A CA2579812174 NM_001320298.2:c.394_396delinsTCT CA2579812175 NM_001320298.2:c.394_396delinsAGT