Canonical Allele Identifier: PA2579801482
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Phe443Tyr
CA410396987
NM_000071.3:c.1328T>A
CA2579805610
NM_000071.3:c.1328_1329delinsAT