Canonical Allele Identifier: PA2579798323
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Thr296Gly
CA2579804116
NM_000071.3:c.886_888delinsGGT
CA2579804117
NM_000071.3:c.886_887delinsGG