Canonical Allele Identifier: PA2579798210
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu291Leu
CA2579809969
NM_000071.3:c.871_872delinsTT
CA2579809970
NM_000071.3:c.871_872delinsCT