Canonical Allele Identifier: PA2827071041
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Leu434Ser
CA113889
NM_001321072.1:c.1301T>C
CA2579806942
NM_001321072.1:c.1301_1302delinsCT
CA2579806943
NM_001321072.1:c.1300_1302delinsAGT
CA3273284909
NM_001321072.1:c.1301_1302delinsCA
CA3273284916
NM_001321072.1:c.1300_1302delinsAGC
CA3273284918
NM_001321072.1:c.1301_1302delinsCC