Canonical Allele Identifier: PA2579801215
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Cys431Val
CA2579810945
NM_000071.3:c.1291_1292delinsGT
CA2579810947
NM_000071.3:c.1291_1293delinsGTG