Canonical Allele Identifier: PA2827070938
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Ser395Leu
CA321686665
NM_001321072.1:c.1184C>T
CA2579805303
NM_001321072.1:c.1183_1184delinsCT
CA2579813453
NM_001321072.1:c.1183_1185delinsCTT