Allele Registry

Canonical Allele Identifier: PA320827

Gene: CBS HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score 0.6455696203

Score 0.7576856649

Score 0.5655

Score 0.5167

Linked Data - NCBI & NCI

ClinVar Allele:

210447

ClinVar RCV:

RCV000196407

RCV001086812

RCV002229442

RCV002277462

RCV002315525

RCV003330559

RCV003907714

ClinVar Variation:

212883

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000062.1:p.Lys72Ile	CA320825 NM_000071.3:c.215A>T