Canonical Allele Identifier: PA2499248496
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Pro290Leu
CA321091497
NM_001320298.2:c.869C>T
CA2579805450
NM_001320298.2:c.869_870delinsTA
CA3273296341
NM_001320298.2:c.868_870delinsTTA
CA3273296350
NM_001320298.2:c.869_870delinsTC
CA3273296352
NM_001320298.2:c.869_870delinsTT
CA3273296403
NM_001320298.2:c.868_869delinsTT