Allele Registry

Canonical Allele Identifier: PA096087

Gene: CBS HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score 0.9180822939

Score 0.7266

Score 0.9969

Score 0.323943662

Linked Data - NCBI & NCI

ClinVar Allele:

15164

ClinVar RCV:

RCV000000147

RCV000469164

RCV001192721

RCV001546787

RCV002227958

RCV002313702

ClinVar Variation:

125

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000062.1:p.Arg266Lys	CA113891 NM_000071.3:c.797G>A