Canonical Allele Identifier: PA916024743
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Cys4Arg
CA324303
NM_001321072.1:c.10T>C
CA2579811019
NM_001321072.1:c.10_12delinsCGG
CA3273300037
NM_001321072.1:c.10_12delinsAGA
CA3273300038
NM_001321072.1:c.10_12delinsAGG
CA3273300039
NM_001321072.1:c.10_12delinsCGA
CA3273300040
NM_001321072.1:c.10_12delinsCGC