Allele Registry

Canonical Allele Identifier: PA096594

Gene: CBS HGNC NCBI

MaveDb:

Score 0.2007487966

Score 0.3088082902

Score 0.3624

Score 0.2334

ClinVar Allele:

15162

ClinVar RCV:

RCV000000145

RCV003495103

ClinVar Variation:

123

HGVS (amino-acid)	Matching Registered Transcripts
NP_000062.1:p.Lys384Glu	CA113887 NM_000071.3:c.1150A>G