Allele Registry

Canonical Allele Identifier: PA645500034

Gene: CBS HGNC NCBI

MaveDb:

Score 0.0428324698

Score 0.5387

Score 0.3873

Score 0.0246033161

ClinVar Allele:

426363

ClinVar RCV:

RCV000497733

ClinVar Variation:

431934

HGVS (amino-acid)	Matching Registered Transcripts
NP_000062.1:p.Thr191Lys	CA410601079 NM_000071.3:c.572C>A