Allele Registry

Canonical Allele Identifier: PA2741863215

Gene: CBS HGNC NCBI

ClinVar Allele:

3069825

ClinVar RCV:

RCV003598642

ClinVar Variation:

2908227

HGVS (amino-acid)	Matching Registered Transcripts
NP_001307227.1:p.Val371Leu	CA410398030 NM_001320298.2:c.1111G>T CA410398031 NM_001320298.2:c.1111G>C CA2579803099 NM_001320298.2:c.1111_1113delinsCTT