Canonical Allele Identifier: PA916024770
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Gly48Arg
CA320011
NM_001321072.1:c.142G>A
CA410601523
NM_001321072.1:c.142G>C
CA2579809636
NM_001321072.1:c.142_144delinsAGA
CA2579809637
NM_001321072.1:c.142_144delinsCGT