Allele Registry

Canonical Allele Identifier: PA658672939

Gene: CBS HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score 0.164556962

Score 0.4324697755

Score 0.2903

Score 0.4528

Linked Data - NCBI & NCI

ClinVar Allele:

469652

ClinVar RCV:

RCV000538588

RCV001755867

RCV002330936

RCV002530067

RCV003915591

ClinVar Variation:

471365

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000062.1:p.Glu144Gln	CA321097472 NM_000071.3:c.430G>C