Canonical Allele Identifier: PA3088322589
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171479.1:p.Pro422Arg
CA410397325
NM_001178008.3:c.1265C>G
CA2579805188
NM_001178008.3:c.1265_1266delinsGT
CA2579805189
NM_001178008.3:c.1264_1265delinsAG