Canonical Allele Identifier: PA2579801129
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Pro427Val
CA2579805162
NM_000071.3:c.1279_1281delinsGTT
CA2579805164
NM_000071.3:c.1279_1280delinsGT