Canonical Allele Identifier: PA2579801558
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Pro447Val
CA2579805129
NM_000071.3:c.1339_1341delinsGTT
CA2579805130
NM_000071.3:c.1339_1340delinsGT
CA2579805131
NM_000071.3:c.1339_1341delinsGTG