Canonical Allele Identifier: PA2579798211
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu291Lys
CA410600108
NM_000071.3:c.871G>A
CA2579809968
NM_000071.3:c.871_873delinsAAA