Allele Registry

Canonical Allele Identifier: PA2579799934

Gene: CBS HGNC NCBI

MaveDb:

Score 0.9823347391

Score 0.9769

Score 0.7924

Score 0.8503678475

ClinVar Allele:

3069825

ClinVar RCV:

RCV003598642

ClinVar Variation:

2908227

HGVS (amino-acid)	Matching Registered Transcripts
NP_000062.1:p.Val371Leu	CA410398030 NM_000071.3:c.1111G>T CA410398031 NM_000071.3:c.1111G>C CA2579803099 NM_000071.3:c.1111_1113delinsCTT