Allele Registry

Canonical Allele Identifier: PA096799

Gene: CBS HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score 0.237118916

Score 0.3787564767

Score 0.6908

Score 0.5382

Linked Data - NCBI & NCI

ClinVar Allele:

15166

ClinVar RCV:

RCV000000150

RCV000179250

RCV000458159

RCV002227959

RCV002265542

RCV002310622

RCV004540986

ClinVar Variation:

127

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000062.1:p.Val168Met	CA113895 NM_000071.3:c.502G>A