Allele Registry

Canonical Allele Identifier: PA096769

Gene: CBS HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score 0.9404581447

Score 0.9789

Score 0.1632

Score 0.2195578137

Linked Data - NCBI & NCI

ClinVar Allele:

15170

ClinVar RCV:

RCV000000154

RCV000078106

RCV000169466

RCV002227961

RCV002271361

RCV004018522

ClinVar Variation:

131

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000062.1:p.Thr353Met	CA113902 NM_000071.3:c.1058C>T