Allele Registry

Canonical Allele Identifier: PA096735

Gene: CBS HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score 0.0428324698

Score 0.0529

Score 0.037

Score 0.0246033161

Linked Data - NCBI & NCI

ClinVar Allele:

15171

ClinVar RCV:

RCV000000155

RCV000195441

RCV000576767

RCV000589097

RCV002227962

RCV003914787

RCV004018523

ClinVar Variation:

132

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000062.1:p.Thr191Met	CA113904 NM_000071.3:c.572C>T