Canonical Allele Identifier: PA2826133333
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Cys109Arg
CA324303
NM_001178009.3:c.325T>C
CA2579811019
NM_001178009.3:c.325_327delinsCGG
CA3273300037
NM_001178009.3:c.325_327delinsAGA
CA3273300038
NM_001178009.3:c.325_327delinsAGG
CA3273300039
NM_001178009.3:c.325_327delinsCGA
CA3273300040
NM_001178009.3:c.325_327delinsCGC