Canonical Allele Identifier: PA2579801278
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Thr434Ser
CA410397128
NM_000071.3:c.1301C>G
CA410397135
NM_000071.3:c.1300A>T
CA2579803796
NM_000071.3:c.1300_1302delinsTCT