Canonical Allele Identifier: PA2579801250
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gly432Glu
CA410397165
NM_000071.3:c.1295G>A
CA2579809613
NM_000071.3:c.1295_1296delinsAA