Allele Registry

Canonical Allele Identifier: PA645499937

Gene: CBS HGNC NCBI

MaveDb:

Score 0.7987359031

Score 0.786761051

Score 0.9526

Score 0.8995

ClinVar RCV:

RCV001833290

RCV001859452

RCV002310885

ClinVar Variation:

263891

HGVS (amino-acid)	Matching Registered Transcripts
NP_000062.1:p.Arg132Ser	CA10587954 NM_000071.3:c.394C>A CA2579812174 NM_000071.3:c.394_396delinsTCT CA2579812175 NM_000071.3:c.394_396delinsAGT