Canonical Allele Identifier: PA2826132695
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171479.1:p.Gly134Arg
CA320927
NM_001178008.3:c.400G>A
CA321097659
NM_001178008.3:c.400G>C
CA2579809704
NM_001178008.3:c.400_402delinsAGA
CA3273299052
NM_001178008.3:c.400_402delinsCGT
CA3273299060
NM_001178008.3:c.400_402delinsCGA
CA3273299068
NM_001178008.3:c.400_402delinsCGC