Canonical Allele Identifier: PA2826133746
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 129

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Pro422Leu
CA113898
NM_001178009.3:c.1265C>T
CA2579805180
NM_001178009.3:c.1264_1265delinsTT
CA2579805181
NM_001178009.3:c.1265_1266delinsTT
CA2579813503
NM_001178009.3:c.1265_1266delinsTC