This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000381225.1:p.Pro422Leu
CA113898
ENST00000398158.5:c.1265C>T
CA2579805180
ENST00000398158.5:c.1264_1265delinsTT
CA2579805181
ENST00000398158.5:c.1265_1266delinsTT
CA2579813503
ENST00000398158.5:c.1265_1266delinsTC