Canonical Allele Identifier: PA2579794415
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Phe111Val
CA410601931
NM_000071.3:c.331T>G
CA2579806257
NM_000071.3:c.331_333delinsGTG
CA2579806258
NM_000071.3:c.331_333delinsGTT