Canonical Allele Identifier: PA2579800900
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu416Leu
CA2579809914
NM_000071.3:c.1246_1247delinsTT
CA2579809915
NM_000071.3:c.1246_1247delinsCT