Canonical Allele Identifier: PA2579798087
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ser285Leu
CA2579805062
NM_000071.3:c.853_855delinsCTG
CA2579805063
NM_000071.3:c.854_855delinsTA