Canonical Allele Identifier: PA2827042987
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Cys109Arg
CA324303
NM_001320298.2:c.325T>C
CA2579811019
NM_001320298.2:c.325_327delinsCGG
CA3273300037
NM_001320298.2:c.325_327delinsAGA
CA3273300038
NM_001320298.2:c.325_327delinsAGG
CA3273300039
NM_001320298.2:c.325_327delinsCGA
CA3273300040
NM_001320298.2:c.325_327delinsCGC