Allele Registry

Canonical Allele Identifier: PA2827070718

Gene: CBS HGNC NCBI

ClinVar RCV:

RCV003496825

ClinVar Variation:

2772980

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308001.1:p.Val320Leu	CA410397282 NM_001321072.1:c.958G>T CA410397285 NM_001321072.1:c.958G>C CA2579803036 NM_001321072.1:c.958_960delinsCTT CA2579803037 NM_001321072.1:c.958_960delinsTTA