Allele Registry

Canonical Allele Identifier: PA096044

Gene: CBS HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score 0.4016758781

Score 0.9318

Score 0.9705933761

Score 0.9589

Linked Data - NCBI & NCI

ClinVar Allele:

194786

ClinVar RCV:

RCV000178709

RCV000723426

RCV001804908

RCV002228790

ClinVar Variation:

197625

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000062.1:p.Arg125Gln	CA275291 NM_000071.3:c.374G>A