Allele Registry

Canonical Allele Identifier: PA3057560832

Gene: CBS HGNC NCBI

ClinVar RCV:

RCV004731715

ClinVar Variation:

3344091

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308001.1:p.Thr131Ile	CA321095438 NM_001321072.1:c.392C>T CA2579813434 NM_001321072.1:c.392_393delinsTT CA2579813435 NM_001321072.1:c.392_393delinsTA