Canonical Allele Identifier: PA2741857610
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Pro40Arg
CA410601659
NM_001321072.1:c.119C>G
CA2579805930
NM_001321072.1:c.119_120delinsGT
CA2579805931
NM_001321072.1:c.118_119delinsAG