Allele Registry

Canonical Allele Identifier: PA916024415

Gene: CBS HGNC NCBI

ClinVar Allele:

488288

ClinVar RCV:

RCV000723460

RCV001805199

RCV002232228

RCV003459461

ClinVar Variation:

496864

HGVS (amino-acid)	Matching Registered Transcripts
NP_001307227.1:p.Glu302Lys	CA321091356 NM_001320298.2:c.904G>A