Allele Registry

Canonical Allele Identifier: PA916024457

Gene: CBS HGNC NCBI

ClinVar RCV:

RCV000000152

RCV000522394

RCV000675050

RCV002444412

ClinVar Variation:

129

HGVS (amino-acid)	Matching Registered Transcripts
NP_001307227.1:p.Pro422Leu	CA113898 NM_001320298.2:c.1265C>T CA2579805180 NM_001320298.2:c.1264_1265delinsTT CA2579805181 NM_001320298.2:c.1265_1266delinsTT CA2579813503 NM_001320298.2:c.1265_1266delinsTC