Canonical Allele Identifier: PA2579795772
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu176Leu
CA2579810079
NM_000071.3:c.526_527delinsTT
CA2579810080
NM_000071.3:c.526_528delinsCTT
CA2579810081
NM_000071.3:c.526_527delinsCT